Location: | 5'-int 2 (i00) | Detail: | |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | No protein | |
Activity: | 50% LDLR activity |
Location: | 5'-int 1 (i00) | Detail: | |
AA Change: | Ethnicities: | Italian English | |
PCR Assay: | Comments: | No protein | |
Activity: | 40-50% LDLR activity |
Location: | 5'-int 1 (i00) | Detail: | |
AA Change: | Ethnicities: | American | |
PCR Assay: | Comments: | No protein | |
Activity: | <2% LDLR activity |
Location: | 5'-int 2 (i00) | Detail: | |
AA Change: | Ethnicities: | Spanish | |
PCR Assay: | Comments: | No protein | |
Activity: |
Location: | 5'-int 1 (i00) | Detail: | |
AA Change: | Ethnicities: | French-Canadian | |
PCR Assay: | Comments: | No protein, 60% of French Canadian FH | |
Activity: | <2% LDLR activity |
Location: | 5'-int 1 (i00) | Detail: | |
AA Change: | Ethnicities: | Spanish | |
PCR Assay: | Comments: | No protein | |
Activity: |
Location: | 5'-int 6 (i00) | Detail: | Del repeats 1-6 |
AA Change: | Ethnicities: | UK | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4/5 (repeat 5/6) | Detail: | |
AA Change: | FsA211 | Ethnicities: | Brittish |
PCR Assay: | Comments: | ||
Activity: |
Location: | Promoter (prom) | Detail: | |
AA Change: | 5' non coding (-53) | Ethnicities: | UK |
PCR Assay: | Comments: | -146 reading from nuc+1 (Correct location -53) | |
Activity: |
Location: | Promoter (prom) | Detail: | |
AA Change: | 5' non coding (-43) | Ethnicities: | Finnish Danish |
PCR Assay: | Comments: | -136 reading from nuc+1 (Correct location-43) | |
Activity: |
Location: | Promoter (prom) | Detail: | |
AA Change: | 5' non coding (-42) | Ethnicities: | Columbian |
PCR Assay: | Comments: | -135 reading from nuc+1 (Correct location -42) | |
Activity: | 5-15% LDLR activity |
Location: | Promoter (prom) | Detail: | |
AA Change: | 5' non coding (-44) | Ethnicities: | American |
PCR Assay: | Comments: | -137reading from nuc+1 (Correct location -44) | |
Activity: | 5-15% LDLR activity |
Location: | Promoter (prom) | Detail: | Del CTT |
AA Change: | 5' non coding (-92) | Ethnicities: | S African (Pedi) |
PCR Assay: | Comments: | -138 reading from nuc+1 (Correct location -92) | |
Activity: | 5-15% LDLR activity |
Location: | Promoter (prom) | Detail: | |
AA Change: | 5' non-coding (-59) | Ethnicities: | S.African (coloured) |
PCR Assay: | Comments: | -152 reading from nuc+1Correct location is -59. | |
Activity: |
Location: | Promoter (prom) | Detail: | |
AA Change: | 5' non coding (-175) | Ethnicities: | South African (black) |
PCR Assay: | Comments: | -269 reading from nuc+1 (Correct location -175 ) | |
Activity: |
Location: | Promoter (prom) | Detail: | |
AA Change: | 5' non-coding (-124) | Ethnicities: | S. African |
PCR Assay: | Comments: | -218 reading from nuc+1 (Correct location -124) | |
Activity: |
Location: | Promoter (prom) | Detail: | |
AA Change: | 5' non-coding (-45) | Ethnicities: | Welsh |
PCR Assay: | Comments: | -138 reading from nuc+1 (Correct location -45) | |
Activity: | 43% activity + sterols and 25% - sterols |
Location: | Promoter (prom) | Detail: | |
AA Change: | 5' non coding | Ethnicities: | UK |
PCR Assay: | Comments: | -14 reading from nuc+1 | |
Activity: |
Location: | exon 1 (Signal sequence) | Detail: | |
AA Change: | M-21V | Ethnicities: | Dutch German |
PCR Assay: | NlaIII + | Comments: | |
Activity: |
Location: | exon 1 (Signal sequence) | Detail: | Term at 4 |
AA Change: | W-18X | Ethnicities: | Chinese Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 1 (Signal sequence) | Detail: | |
AA Change: | M-21L | Ethnicities: | Spanish |
PCR Assay: | NlaIII - | Comments: | |
Activity: |
Location: | exon 1 (Signal sequence) | Detail: | |
AA Change: | W-18X | Ethnicities: | Columbian Spanish |
PCR Assay: | DdeI + | Comments: | |
Activity: | <2% LDLR activity |
Location: | exon 1 (Signal sequence) | Detail: | |
AA Change: | W-12R | Ethnicities: | S.African (coloured) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 1 (Signal sequence) | Detail: | |
AA Change: | W-18X | Ethnicities: | Chinese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 1 (Signal sequence) | Detail: | |
AA Change: | FsP-19 | Ethnicities: | American |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 1 (Signal sequence) | Detail: | >21aa-term |
AA Change: | FsG-20 | Ethnicities: | UK American Greek Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 1 (Signal sequence) | Detail: | |
AA Change: | W-12R | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 1 (Signal sequence) | Detail: | |
AA Change: | M-21L | Ethnicities: | South African Indian |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 1 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 1 | Detail: | Cryptic splice site:downstream of ex2 |
AA Change: | 3'splice acceptor | Ethnicities: | Japanese |
PCR Assay: | DdeI (+) | Comments: | No protein synthesised |
Activity: |
Location: | intron 1 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 1-int 3 (i01) | Detail: | Del repeats 1, 2 |
AA Change: | Ethnicities: | French-Canadian | |
PCR Assay: | Comments: | 5% of French Canadian FH | |
Activity: |
Location: | int 1-int 10 (i01) | Detail: | |
AA Change: | Ethnicities: | Dutch | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | int 1-int 12 (i01) | Detail: | Del A1-28aa-term |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 1-int 3 (i01) | Detail: | Del repeats 1, 2 |
AA Change: | Ethnicities: | Japanese | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 1-int 6 (i01) | Detail: | Del repeats 1-7 |
AA Change: | Ethnicities: | Canadian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 1-int 6 (i01) | Detail: | Del repeats 1-7 |
AA Change: | Ethnicities: | UK | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 1-int 5 (i01) | Detail: | Del repeats 1-6 |
AA Change: | Ethnicities: | Danish | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 1-int 14 (i01) | Detail: | Dup S44-T692 |
AA Change: | Ethnicities: | Spanish | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 1-int 5 (i01) | Detail: | Dupl V2-D251 |
AA Change: | Ethnicities: | French | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 1-int 3 (i01) | Detail: | Del repeats 1, 2 |
AA Change: | Ethnicities: | Japanese | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 1-int 8 (i01) | Detail: | Ins V2-V374 |
AA Change: | Ethnicities: | American | |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | int 1-int 6 (i01) | Detail: | Del repeats 1-7 |
AA Change: | Ethnicities: | Canadian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 1-int 4 (i01) | Detail: | Del repeats 1, 2, (3-5) |
AA Change: | Ethnicities: | Japanese | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 1-int 12 (i06) | Detail: | Del Ala1+28aa-term |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | ||
Activity: | 45-55% LDLR activity |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | Q14X | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | D33A | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | E10X | Ethnicities: | Spanish Belgian, Sephardic Jewish from Morocco Flemish-Walloon |
PCR Assay: | RmaI +, SpeI + | Comments: | |
Activity: |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | F11C | Ethnicities: | Dutch |
PCR Assay: | Forced EcoRI - | Comments: | |
Activity: |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | A29T | Ethnicities: | Austrian S. African (coloured) |
PCR Assay: | DraIII + | Comments: | |
Activity: |
Location: | exon 2 (repeat 1) | Detail: | >12aa-term |
AA Change: | FsK17 | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | C25S | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 2 (repeat 1) | Detail: | >166aa-term |
AA Change: | FsI19 | Ethnicities: | UK |
PCR Assay: | NsiI + | Comments: | |
Activity: |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | D26N | Ethnicities: | Italian Japanese German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | FsG34 | Ethnicities: | Swedish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | A29S | Ethnicities: | Dutch German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | FsQ12 | Ethnicities: | Algerian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | FsE7 | Ethnicities: | Belgian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 2 (repeat 1) | Detail: | Term at 204 |
AA Change: | FsQ12 | Ethnicities: | Algerian |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | S35P | Ethnicities: | Norwegian |
PCR Assay: | HaeIII - | Comments: | |
Activity: |
Location: | exon 2 (repeat 1) | Detail: | >147aa-term |
AA Change: | FsE37 | Ethnicities: | S.African (Pedi) |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | C31Y | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | W23X | Ethnicities: | American-Canadian German Danish Dutch Spanish Norwegian Belgian |
PCR Assay: | BslI -, BsiYI - | Comments: | |
Activity: | 2-5% LDLR activity |
Location: | exon 2 (repeat 1) | Detail: | Term after 2aa |
AA Change: | FsR5 | Ethnicities: | Chinese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | Q12X | Ethnicities: | Turkish Italian French |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 2 (repeat 1) | Detail: | |
AA Change: | C6W | Ethnicities: | American Croatian English |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | exon 2 (repeat 1) | Detail: | Del GCGATG (FH Pedi/Tswana) |
AA Change: | dD26-G27 | Ethnicities: | S. African (black) Greek |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | intron 2 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 2 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | S. African |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 2 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | English Dutch |
PCR Assay: | Forced BsYI + | Comments: | |
Activity: |
Location: | int 2-int 8 (i02) | Detail: | Del repeats 2-7, A, B |
AA Change: | Ethnicities: | Dutch | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 2-int 15 (i02) | Detail: | |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 2-int 4 (i02) | Detail: | Dup S44-C210 |
AA Change: | Ethnicities: | Spanish | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 2-int 8 (i02) | Detail: | Dup S44-V374 in intron 8 |
AA Change: | Ethnicities: | Dutch | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 2-int 6 (i02) | Detail: | Inframe dup S44-C292, V>L change at junction |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | 70% binding | |
Activity: |
Location: | int 2-int 3 (i02) | Detail: | Inframe del |
AA Change: | Ethnicities: | Norwegian | |
PCR Assay: | Comments: | Different r.e patterns to previous deletions | |
Activity: | 70% LDLR activity |
Location: | int 2-int 8 (i02) | Detail: | Del repeats 2-7 |
AA Change: | Ethnicities: | Canadian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 2-int 7 (i02) | Detail: | Del repeats 2-7 |
AA Change: | Ethnicities: | Danish | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 2-int 6 (i02) | Detail: | Ins S44-N251 |
AA Change: | Ethnicities: | French | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 2-int 10 (i02) | Detail: | |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | 3 mRNA's | |
Activity: | 70% LDLR activity |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | C61Y | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | C83F | Ethnicities: | UK Austrian N. Irish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | Ins AT, term after 140aa |
AA Change: | FsS44 | Ethnicities: | German |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | P84S | Ethnicities: | Finnish |
PCR Assay: | Fored TaqI + | Comments: | |
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | P63L | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | Del CTGT, >100aa-term |
AA Change: | FsG82 | Ethnicities: | American |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 3 (repeat 2) | Detail: | >126aa-term |
AA Change: | FsV58 | Ethnicities: | American |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | Q81X | Ethnicities: | Italian American |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | W66G | Ethnicities: | French-Canadian Danish German Norwegian English Afrikaner Swedish N. Irish French |
PCR Assay: | BsglI +, BsiYI + | Comments: | |
Activity: | 25-100% LDLR activity |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | C74S | Ethnicities: | Germany |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | R60C | Ethnicities: | Danish S. African |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | C74X | Ethnicities: | Korean Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | W66X | Ethnicities: | UK |
PCR Assay: | XbaI - | Comments: | |
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | D69N | Ethnicities: | UK Chinese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | D69G | Ethnicities: | English American |
PCR Assay: | Forced TaqI + | Comments: | |
Activity: | 15-30% LDLR activity |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | C54S | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | >104aa-term |
AA Change: | FsE80 | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | Term at 204 |
AA Change: | FsD51 | Ethnicities: | N.Irish Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | D69Y | Ethnicities: | Afrikaner |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | C54Y | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | Q64X | Ethnicities: | German S.African Jewish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | C68R | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | E80X | Ethnicities: | Finnish Italian Swedish French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | S78X | Ethnicities: | Norwegian English Swedish |
PCR Assay: | Forced HinfI + | Comments: | 8% Norwegian FH |
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | FsG56 | Ethnicities: | Russian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | C74G | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | R57C | Ethnicities: | English S.African Indian and coloured |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | C74R | Ethnicities: | Germany |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | Del TC, >22aa-term |
AA Change: | FsP84 | Ethnicities: | French |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | C68W | Ethnicities: | Spanish UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | Q71E | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 3 (repeat 2) | Detail: | |
AA Change: | E80K | Ethnicities: | American English French Spanish German N. Irish |
PCR Assay: | Forced TaqI + | Comments: | 10% in Manchester, UK |
Activity: |
Location: | intron 3 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Dutch German |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 3 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Danish Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 3 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Dutch, Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 3 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | Dutch Austrian |
PCR Assay: | PstI - | Comments: | |
Activity: |
Location: | intron 3 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 3 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Norwegian Dutch Belgian Danish English Swedish Korean Austrian German S.Africa(black) Italien |
PCR Assay: | Forced NdeI + | Comments: | 25% FH, South East Norway |
Activity: |
Location: | int 3-int 6 (i03) | Detail: | |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 3-int 6 (i03) | Detail: | Del repeats 3-7 |
AA Change: | Ethnicities: | Russian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 3-int 7 (i03) | Detail: | Del repeats 3-7 |
AA Change: | Ethnicities: | Canadian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 3-int 6 (i03) | Detail: | del repeats 3-7 |
AA Change: | Ethnicities: | Spanish | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 3-int 6 (i03) | Detail: | Del repeats 4-7 |
AA Change: | Ethnicities: | Dutch | |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 3 (splice donor) | Detail: | Del CG |
AA Change: | 5' splice donor | Ethnicities: | French |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | FsK86 | Ethnicities: | N. Irish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C113X | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | D97Y | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C88Y | Ethnicities: | UK |
PCR Assay: | RsaI + | Comments: | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C122R | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | del GT/ ins TC |
AA Change: | C88R | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | Q133X | Ethnicities: | Spanish French |
PCR Assay: | RmaI + | Comments: | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C113R | Ethnicities: | Dutch German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C88R | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | E92X | Ethnicities: | French Belgian Hungarian German Danish |
PCR Assay: | RmaI + | Comments: | |
Activity: | <2% LDLR activity |
Location: | exon 4 (repeat 3) | Detail: | Del TGTG, >76aa-term |
AA Change: | FsC107 | Ethnicities: | Afrikaner American (black) |
PCR Assay: | Comments: | ||
Activity: | 40-50% LDLR activity |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | E119X | Ethnicities: | Italian Venezuelan |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | E119K | Ethnicities: | Phillipino Canadian Danish Japanese Spanish S. African (Indian) |
PCR Assay: | MnlI - | Comments: | Japan (1.7%), also called FH Durban-2 |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | E92K | Ethnicities: | UK |
PCR Assay: | Sizing | Comments: | |
Activity: | <2% LDLR activity |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C122X | Ethnicities: | Dutch Belgian Danish French Swedish |
PCR Assay: | AqeI +, ScrFI - | Comments: | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | FsC88 | Ethnicities: | Finnish |
PCR Assay: | Sizing | Comments: | |
Activity: | >92aa-term |
Location: | exon 4 (repeat 3) | Detail: | Ins TGTG |
AA Change: | FsC127 | Ethnicities: | Belgian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C88F | Ethnicities: | English |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | D118N | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C113W | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C68Y | Ethnicities: | UK N.Irish |
PCR Assay: | RsaI + | Comments: | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C134X | Ethnicities: | Norwegian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | delD115-D118 | Ethnicities: | American |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C134G | Ethnicities: | German-Canadian Dutch Polish Norwegian French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C127W | Ethnicities: | Russian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C95R | Ethnicities: | Spanish |
PCR Assay: | Comments: | 5/58 Valencia, Spain | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | R94H | Ethnicities: | Korean S. African Chinese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C95F | Ethnicities: | Belgian |
PCR Assay: | Fnu4HI - | Comments: | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | >87aa-term |
AA Change: | FsD97 | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | H96Y | Ethnicities: | Hungarian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | Del GGGAAGT, >7aa-term |
AA Change: | FsG98 | Ethnicities: | Japanese |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | Q104X | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | V106I | Ethnicities: | Korean |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | >49aa-term |
AA Change: | FsS109 | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C113F | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | FsS102 | Ethnicities: | S. African |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | FsG128 | Ethnicities: | Belgian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | FsC127 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C122S | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | T87M | Ethnicities: | Germany |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | FsD112 | Ethnicities: | S. African (Indian) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C127Y | Ethnicities: | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | R103W | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C107Y | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | C100R | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | FsC95 | Ethnicities: | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | Term at 201 |
AA Change: | FsD91 | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | I101F | Ethnicities: | Chinese (Hong Kong) |
PCR Assay: | Comments: | Class 3 | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | E119N | Ethnicities: | German |
PCR Assay: | BsaHI + | Comments: | |
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | D108N | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | F105S | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 3) | Detail: | |
AA Change: | FsQ104 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | P160R | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | Stop at 204 |
AA Change: | FsC152 | Ethnicities: | Spanish French |
PCR Assay: | TaqI + | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | D147Y | Ethnicities: | Norwegian |
PCR Assay: | Forced AluI + | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C152X | Ethnicities: | Spanish N. Irish |
PCR Assay: | DdeI + | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C163Y | Ethnicities: | N. Irish Italian American Scottish |
PCR Assay: | Forced RsaI + | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | Ins GGCTCGGA, >32aa-term |
AA Change: | FsD157 | Ethnicities: | German |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | S156L | Ethnicities: | German Dutch Polish Spanish UK Czech F.American Puerto Rican French |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | D154N | Ethnicities: | Dutch German Greek Spanish Afrikaner French S. African (coloured) |
PCR Assay: | MboI - | Comments: | 5-10% Afrikaner FH |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | D147H | Ethnicities: | Sephardic Jewish, Norwegian |
PCR Assay: | Comments: | 10% in Israel | |
Activity: | <2% LDLR activity |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C152R | Ethnicities: | Greek |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | I140T | Ethnicities: | Costa Rican |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C152Y | Ethnicities: | German Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | D147N | Ethnicities: | UK Scottish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | >19aa-term |
AA Change: | FsF169 | Ethnicities: | Belgian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C146X | Ethnicities: | Dutch Austrian UK |
PCR Assay: | DdeI + | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | Term after 19aa |
AA Change: | FsG165 | Ethnicities: | Swedish Slovenian Arabic (Muslem from Israel) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C163R | Ethnicities: | Chinese Dutch Syrian |
PCR Assay: | Forced MspI + | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C139Y | Ethnicities: | American |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | <23aa-term |
AA Change: | FsI140 | Ethnicities: | Belgian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C152W | Ethnicities: | French Canadian German |
PCR Assay: | BsiYI +, Forced BfaI site | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | Term at 178 |
AA Change: | FsG165 | Ethnicities: | German S.African (European) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | D157Y | Ethnicities: | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | FsR164 | Ethnicities: | German |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C139G | Ethnicities: | Russian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | Y167X | Ethnicities: | Swedish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | Q170X | Ethnicities: | Chinese (Hong Kong) |
PCR Assay: | Comments: | Class 1 | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | G155V | Ethnicities: | Belgian Czech |
PCR Assay: | BspWI - | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | FsI140 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C146W | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | Del TT |
AA Change: | FsL166 | Ethnicities: | Swedish |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | D151H | Ethnicities: | African |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | D157N | Ethnicities: | Austrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | E161X | Ethnicities: | Korean |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | D154E | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C163S | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | Y167X | Ethnicities: | Druze |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | D151N | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | FsP150 | Ethnicities: | Scottish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C139R | Ethnicities: | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C152G | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | C146Y | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | D154Y | Ethnicities: | Norwegian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 4) | Detail: | Del GATGGCTCGGAT |
AA Change: | delD154-D157 | Ethnicities: | German |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | FsF93 | Ethnicities: | German |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 4) | Detail: | |
AA Change: | D157E | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Dup GACTGCAAGGACAAATCT |
AA Change: | dup D200-S205 | Ethnicities: | Afrikaner |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | D203G | Ethnicities: | Italian American |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 4 (repeat 5) | Detail: | Del AGTGCACTCACTCCAGCTGGCG term 49aa downstream |
AA Change: | FsE187 | Ethnicities: | Italian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Ins AATCTGAC, >39aa-term |
AA Change: | FsE207 | Ethnicities: | Costa Rican |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | stop M243 |
AA Change: | FsP199 | Ethnicities: | UK German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Term at 20 |
AA Change: | FsG197 | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | C201G | Ethnicities: | Arabic (Iraq) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | S177L | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | D203N | Ethnicities: | Portugese French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Term at 204 |
AA Change: | FsS185 | Ethnicities: | S.African French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Ins GGACAAATCTG |
AA Change: | FsD206 | Ethnicities: | German |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | D206E | Ethnicities: | Afrikaner American English Dutch Greek Norwegian NZ English |
PCR Assay: | DdeI + | Comments: | 65-70% of Afrikaner FH |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | D200N | Ethnicities: | German English Korean |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | D200G | Ethnicities: | Italian American Norwegian German Austrian Swedish Afrikaners Spanish N.Irish French |
PCR Assay: | MspI + | Comments: | 8% degradation; 5% Italian population |
Activity: | 8% LDLR activity |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | D203A | Ethnicities: | S.African (coloured) |
PCR Assay: | HaeIII + | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Ins ATCTGAC, >1aa-term |
AA Change: | FsE207 | Ethnicities: | French Canadian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Ins ACGGTATGGAC |
AA Change: | FsS185 | Ethnicities: | German |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | C176R | Ethnicities: | British |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | S205P | Ethnicities: | Seminole Indian |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 4 (repeat 5) | Detail: | Term at 204 |
AA Change: | FsC195 | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | D200Y | Ethnicities: | Finnish German Spanish S.African (Indian) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Del GAT |
AA Change: | dD196 | Ethnicities: | USA |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | C210G | Ethnicities: | Norwegian S.African (coloured) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | E207X | Ethnicities: | Morocan American UK Swedish Norwegian German Chinese Korean Dutch |
PCR Assay: | BfaI +, MnlI - | Comments: | |
Activity: | <2% LDLR activity |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | FsS205 | Ethnicities: | Afrikaner |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Dup ATCTGAC, term at 216 |
AA Change: | FsD206 | Ethnicities: | French-Canadian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | E207Q | Ethnicities: | S.African (Indian) American (black) Sephardic Jewish from Iraq |
PCR Assay: | EcoRII + | Comments: | |
Activity: | 2-5% LDLR activity |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | FsS173 | Ethnicities: | New Zealand English |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Del CGT & insTGCAGTCCATACCG |
AA Change: | FsD206 | Ethnicities: | UK |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | ins in frame GGACAAATCTG [DKSE] |
AA Change: | ins DKSE K202-D203 | Ethnicities: | Germany |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | E187K | Ethnicities: | Dutch Israeli Muslem Swedish |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | H190Y | Ethnicities: | American |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | W193X | Ethnicities: | Danish S.African (British) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | del GCCCC or CCCCG, ins GATGGT |
AA Change: | FsP199 | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Del TG, term at 215 |
AA Change: | FsC195 | Ethnicities: | Dutch |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Del ACT |
AA Change: | dH190-S191>P | Ethnicities: | Chinese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | FsE207 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | D203V | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | C201R | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Dup C201-D206 |
AA Change: | Ins C201-D206 | Ethnicities: | German Italian S.African |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | C176F | Ethnicities: | African American |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | C210X | Ethnicities: | English Irish Scottish French |
PCR Assay: | DdeI + | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Del AC, >11aa-term |
AA Change: | FsD206 | Ethnicities: | English Irish |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | C176Y | Ethnicities: | El Salvadorian |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | C201Y | Ethnicities: | Finnish Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | ins CCCCG |
AA Change: | FsD200 | Ethnicities: | Germany |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Term at 251 |
AA Change: | FsD196 | Ethnicities: | German |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | GAG>TGC AAG, del E ins C and K |
AA Change: | E207CK | Ethnicities: | Italian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | C201X | Ethnicities: | Dutch Bulgarian Canadian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Del TGG |
AA Change: | dG197 | Ethnicities: | UK (unknown) |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | E207K | Ethnicities: | French-Canadian Italian Mexican Dutch French Chinese S.African (Indian) |
PCR Assay: | Comments: | Also called FH-Mexico 3 | |
Activity: | <2% LDLR activity |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | F179L | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Del GGT |
AA Change: | dG197 | Ethnicities: | Ashkenazi-Jewish Polish Russian German Afrikaners |
PCR Assay: | Sizing | Comments: | also called FH-Piscataway |
Activity: | <2% LDLR activity |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | C210Y | Ethnicities: | Korean |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | Dup (D200-D206) |
AA Change: | ins D200-D206 | Ethnicities: | African American (black) English Japanese |
PCR Assay: | Comments: | ||
Activity: | 2-5% LDLR activity |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | FsS185 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | S192T | Ethnicities: | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 4 (repeat 5) | Detail: | |
AA Change: | G198D | Ethnicities: | Scottish |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 4 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Icelandic, USA |
PCR Assay: | NlaIII + | Comments: | 60% Icelandic FH population |
Activity: |
Location: | intron 4 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Korean |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 4-int 5 (i04) | Detail: | Del repeat 6 |
AA Change: | Ethnicities: | English | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 4-int 5 (i04) | Detail: | Del repeat 6 |
AA Change: | Ethnicities: | Danish | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 4-int 5 (i04) | Detail: | Del repeat 6 |
AA Change: | Ethnicities: | French | |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | E237K | Ethnicities: | S. African |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | R236W | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | C249Y | Ethnicities: | American Chinese |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | C222R | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | FsK241 | Ethnicities: | Swedish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | D245E | Ethnicities: | American Austrian German: Dutch Czech |
PCR Assay: | Forced MboI - | Comments: | |
Activity: | 15-30% LDLR activity |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | E219K | Ethnicities: | American |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | S223Y | Ethnicities: | Belgian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | C227Y | Ethnicities: | Brittish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | Term at 263 |
AA Change: | FsG225 | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | D235G | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | Q233P | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | R232W | Ethnicities: | S.African (black) Austrian Dutch German Chinese |
PCR Assay: | MspI - | Comments: | |
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | Q221X | Ethnicities: | Corsican |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | C227F | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | Del ATGA, >8aa-term |
AA Change: | FsM243 | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | C234R | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | GTGGCC/A(-87bp)/TGAGCG |
AA Change: | FsT214 | Ethnicities: | German |
PCR Assay: | Sizing | Comments: | |
Activity: | 40% LDLR activity |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | D235E | Ethnicities: | Finnish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | F220S | Ethnicities: | UK |
PCR Assay: | EcoRI + | Comments: | |
Activity: |
Location: | exon 5 (repeat 6) | Detail: | Del GATGA, >4aa-term |
AA Change: | FsD245 | Ethnicities: | Dutch |
PCR Assay: | Forced MboII + | Comments: | |
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | C240F | Ethnicities: | Swedish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | Del CCCATCA |
AA Change: | E246X | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | G248D | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | D245N | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | C215X | Ethnicities: | Asian in UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | E237X | Ethnicities: | UK |
PCR Assay: | NsiI - | Comments: | 2 probands |
Activity: |
Location: | exon 5 (repeat 6) | Detail: | |
AA Change: | D245Y | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 5 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | UK |
PCR Assay: | Tsp45I + or MaeIII + | Comments: | |
Activity: |
Location: | int 5-int 13 (i05) | Detail: | Out of frame, del V252-R641 |
AA Change: | Ethnicities: | N. American | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | D280G | Ethnicities: | Greek Spanish |
PCR Assay: | Comments: | Class 2, 5/115 in Greece | |
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | D280A | Ethnicities: | Greek |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | C281W | Ethnicities: | Iraqi |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | >76aa-term |
AA Change: | FsD272 | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | >24aa-term |
AA Change: | FsL254 | Ethnicities: | Swedish |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | H264Q | Ethnicities: | Belgian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | E256K | Ethnicities: | Swedish Belgian Spanish German Cuban Italian Indian French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | D283Y | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | 58aa-term |
AA Change: | FsK290 | Ethnicities: | N.Irish |
PCR Assay: | Comments: | 8.7% in N.Ireland, founder gene effect-one haplotype. | |
Activity: |
Location: | exon 6 (repeat 7) | Detail: | Del AA, term at 298 |
AA Change: | FsK290 | Ethnicities: | English Irish French |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | C255W | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | W284X | Ethnicities: | Finnish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | T253S | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | C292W | Ethnicities: | Belgian French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | E267X | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | Del AG, >18aa-term |
AA Change: | FsE291 | Ethnicities: | Polish |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 6 (repeat 7) | Detail: | >70aa-term |
AA Change: | FsA278 | Ethnicities: | Czech |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | E267K | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | K273E | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | S285X | Ethnicities: | Czech |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | R282W | Ethnicities: | American |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | D280Y | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | C255Y | Ethnicities: | Syrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | Del AG, >18aa-term |
AA Change: | FsE291 | Ethnicities: | Polish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | Ins TCAG, >2aa-term |
AA Change: | FsD286 | Ethnicities: | Spanish |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | C255X | Ethnicities: | Austrian Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | S285L | Ethnicities: | Dutch Danish German Afrikaner |
PCR Assay: | Comments: | ||
Activity: | 2-5% LDLR activity |
Location: | exon 6 (repeat 7) | Detail: | last base ex 6 |
AA Change: | FsG293 | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | C292X | Ethnicities: | Greek Cypriot |
PCR Assay: | Comments: | 4/115 in Greece | |
Activity: | <2% LDLR activity, |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | FsR273 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | >56aa-term |
AA Change: | FsC292 | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | C292Y | Ethnicities: | UK, Swedish |
PCR Assay: | RsaI + | Comments: | |
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | C255R | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | FsL271 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | D283E | Ethnicities: | American English French |
PCR Assay: | BsmFI - | Comments: | |
Activity: | 2-5% LDLR activity |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | D283N | Ethnicities: | Afrikaner American (black) Irish Dutch |
PCR Assay: | BstKI - | Comments: | |
Activity: | 5-15% LDLR activity |
Location: | exon 6 (repeat 7) | Detail: | Del CCCATCA, <58aa -term |
AA Change: | FsE287 | Ethnicities: | Finnish Swedish American |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | F261S | Ethnicities: | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | C275X | Ethnicities: | Swedish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | C281Y | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | K290R | Ethnicities: | French Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 6 (repeat 7) | Detail: | |
AA Change: | S265R | Ethnicities: | Greek English Austrian French |
PCR Assay: | Comments: | 11/115 in Greece | |
Activity: | 5-15% LDLR activity |
Location: | intron 6 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | S.African (coloured) |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-3'UTR (i06) | Detail: | Term codon 2aa from junction |
AA Change: | Ethnicities: | UK | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-int 12 (i06) | Detail: | Dupl G594, 55aa-term |
AA Change: | Ethnicities: | Dutch | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-int 10 (i06) | Detail: | |
AA Change: | Ethnicities: | Dutch | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | int 6-int 8 (i06) | Detail: | Del repeats A, B |
AA Change: | Ethnicities: | Belgian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-int 14 (i06) | Detail: | Del repeats A, B, EGF spacer, repeat C |
AA Change: | Ethnicities: | Japanese | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-int 12 (i06) | Detail: | |
AA Change: | Ethnicities: | Portugese | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-int 7 (i06) | Detail: | Del repeat A |
AA Change: | Ethnicities: | Polish | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-int 14 (i06) | Detail: | Del repeat A, B, EGF spacer, repeat C |
AA Change: | Ethnicities: | Asian Indian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-int 10 (i06) | Detail: | Del repeat A, B, EGF spacer |
AA Change: | Ethnicities: | Finnish | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-int 7 (i06) | Detail: | Del repeat A |
AA Change: | Ethnicities: | English | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-int 8 (i06) | Detail: | Dupl G293-V374 |
AA Change: | Ethnicities: | Polish in UK | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-int 14 (i06) | Detail: | Del repeat A, B, EGF spacer, repeat C |
AA Change: | Ethnicities: | Japanese English | |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | int 6-int 8 (i06) | Detail: | Del repeats A, B |
AA Change: | Ethnicities: | Korean | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 6-int 8 (i06) | Detail: | Del repeats A, B |
AA Change: | Ethnicities: | Dutch | |
PCR Assay: | Comments: | 10% of Dutch FH | |
Activity: |
Location: | int 6-int 8 (i06) | Detail: | Del repeats A, B |
AA Change: | Ethnicities: | Afrikaner | |
PCR Assay: | Comments: | ||
Activity: | 2-5% LDLR activity |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | C317R | Ethnicities: | Japanese |
PCR Assay: | HaeII + | Comments: | |
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | G322S | Ethnicities: | French Sephardic Jewish from Syria Austrian Belgian Dutch |
PCR Assay: | AluI - | Comments: | |
Activity: | 15-30% LDLR activity |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | C297R | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | R329X | Ethnicities: | world wide-European, Korean |
PCR Assay: | BsrI +, TspRI + | Comments: | Class 1; 9/78 in Southampton, UK |
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | C308Y | Ethnicities: | Chinese |
PCR Assay: | BrsDI + | Comments: | Chinese 4.8%; Class 2B |
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | C308G | Ethnicities: | Ashkenazi Jewish from Poland French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | Q324X | Ethnicities: | UK |
PCR Assay: | PvuII - | Comments: | |
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | D321E | Ethnicities: | Afrikaner American (black) |
PCR Assay: | Comments: | ||
Activity: | 2-5% LDLR activity |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | C317G | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | G314S | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: | 30-40% LDLR activity |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | P320R | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | FsQ328 | Ethnicities: | Askenazi Jewish from Russia/Hungary Spanish |
PCR Assay: | Comments: | From Russia/Hungary | |
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | C331W | Ethnicities: | Italian Dutch Belgian |
PCR Assay: | Comments: | ||
Activity: | 9% LDLR activity |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | C297F | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | G302S | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | C317S | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | Y315X | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | C317Y | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | Del 1 GGC>GCT, term at 368 |
AA Change: | FsG303 | Ethnicities: | German Czech |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | D321N | Ethnicities: | UK, Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | Y315C | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | G303S | Ethnicities: | American Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | R329P | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | delE316-F323 | Ethnicities: | English |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 7 (repeat A) | Detail: | Term after 20aa |
AA Change: | FsA327 | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | H306Y | Ethnicities: | UK, Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | C331X | Ethnicities: | Polish English |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | G314V | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 7 (repeat A) | Detail: | |
AA Change: | C297Y | Ethnicities: | Mexican American |
PCR Assay: | Comments: | ||
Activity: | 2-5% LDLR activity |
Location: | intron 7 | Detail: | Ins ATGCGAAG, >18aa-term |
AA Change: | splicing | Ethnicities: | Czech |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | intron 7 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | Austrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 7 | Detail: | |
AA Change: | 3' splice defect? | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 7 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | Honduran |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 7 | Detail: | |
AA Change: | splicing defect | Ethnicities: | Austrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 7 | Detail: | |
AA Change: | 3' splice junction | Ethnicities: | Danish, Dutch, French |
PCR Assay: | Comments: | Same allele as 96 & 170 | |
Activity: |
Location: | int 7-int 12 (i07) | Detail: | |
AA Change: | Ethnicities: | German | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 7-int 10 (i07) | Detail: | Out of frame, D333-G33 and term codon after 2aa |
AA Change: | Ethnicities: | UK | |
PCR Assay: | Comments: | ||
Activity: |
Location: | ex 8-10 (i08) | Detail: | |
AA Change: | Ethnicities: | ||
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C331R | Ethnicities: | Austrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | I334V | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | E336K | Ethnicities: | French Dutch Norwegian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | Q363P | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C343F | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C371W | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | A>T at 1068 then inframe ins GAGTGTCAGGATCCCGAC, |
AA Change: | FsE336 | Ethnicities: | Italian |
PCR Assay: | Sizing | Comments: | 50% binding |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | Q357P | Ethnicities: | S.African (European) English |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C371X | Ethnicities: | Dutch S African (Indian) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | K369X | Ethnicities: | N.Irish |
PCR Assay: | BsaAI + | Comments: | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C347Y | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | polymorphism |
AA Change: | A370T | Ethnicities: | worldwide |
PCR Assay: | Comments: | polymorphism | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | Del 1115 to 1123 (AGGGTGGCT)/ ins CACTGA |
AA Change: | FsE351 | Ethnicities: | Japanese |
PCR Assay: | Comments: | delE351-Y354/insALN | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | K372N | Ethnicities: | Malay |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | Q357X | Ethnicities: | Chinese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | Y354C | Ethnicities: | French-Canadian |
PCR Assay: | Fnu4HI + | Comments: | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C358Y | Ethnicities: | Spanish Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C347X | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | N349T | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | D335H | Ethnicities: | Japanese |
PCR Assay: | TaqI - | Comments: | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | G361V | Ethnicities: | Afrikaners |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | G352D | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C356Y | Ethnicities: | Afrikaner Swedish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C358R | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | exon 8 (repeat B) | Detail: | Ins TGGC, >6aa-term |
AA Change: | FsY354 | Ethnicities: | Italian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C347R | Ethnicities: | French-Canadian |
PCR Assay: | AciI + | Comments: | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C343R | Ethnicities: | Mexican American Italian |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | Q338X | Ethnicities: | Belgian |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | D333V | Ethnicities: | American Indian |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | D335Y | Ethnicities: | Norwegian Belgian |
PCR Assay: | TaqI - | Comments: | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | C331Y | Ethnicities: | Mexican |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | D333A | Ethnicities: | Austrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | T>A and ins 18 (I334-7aa-E334) |
AA Change: | ins 7aa I334-I336 | Ethnicities: | Italian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | >13aa to term |
AA Change: | FsD335 | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | L364R | Ethnicities: | S.African (coloured) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | Q363X | Ethnicities: | Cypriot S.African (European) |
PCR Assay: | Comments: | On same haplotype as #441 (D365E) | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | D365E | Ethnicities: | Cypriot |
PCR Assay: | Comments: | On same haplotype as #440 (Q363X) | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | 3' splice site abolished; term at 1060+45 |
AA Change: | FsC331 | Ethnicities: | Afro-Carribean/European |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | Q345R | Ethnicities: | Norwegian |
PCR Assay: | AluI - | Comments: | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | FsV374 | Ethnicities: | N Irish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | G375S | Ethnicities: | Finnish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | FsE351 | Ethnicities: | UK |
PCR Assay: | EcoRV - | Comments: | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | FsA370 | Ethnicities: | Syrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | Ins GTGG, >7aa-term |
AA Change: | FsG353 | Ethnicities: | American, UK |
PCR Assay: | Sizing | Comments: | sometimes known as insGGGT at 1119 |
Activity: |
Location: | exon 8 (repeat B) | Detail: | Term at 348 |
AA Change: | FsD341 | Ethnicities: | Dutch |
PCR Assay: | Forced HhaI + | Comments: | |
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | E336G | Ethnicities: | Bulgarian (Dutch) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 8 (repeat B) | Detail: | |
AA Change: | D333G | Ethnicities: | German UK |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | intron 8 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | Belgian |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 8 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 8-int 10 (i08) | Detail: | |
AA Change: | Ethnicities: | Icelandic | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | int 8-int 12 (i08) | Detail: | Dupl E594+16aa-term |
AA Change: | Ethnicities: | Dutch | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 8-int 12 (i08) | Detail: | |
AA Change: | Ethnicities: | Korean | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | V408L | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | W422S | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | Q427K | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | D394G | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | >5aa-term |
AA Change: | FsD424 | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | L405P | Ethnicities: | Chinese (Hong Kong) |
PCR Assay: | Comments: | Class 5 | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | D412H | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | L380H | Ethnicities: | Finnish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | T413R | Ethnicities: | Belgian Spanish Dutch Italian Flemish Walloon |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | I430T | Ethnicities: | Greek |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | Q427X | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | N384K | Ethnicities: | S.African (Indian) |
PCR Assay: | MspI - | Comments: | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | E397X | Ethnicities: | Russian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | F382L | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | V408M | Ethnicities: | Afrikaner Greek Chinese UK German Cuban Dutch Japanese |
PCR Assay: | NlaIII +, MaeII -, TaiI - | Comments: | Afrikaners 20-30%; Chinese 4.8% |
Activity: | <2% LDLR activity, |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | A378D | Ethnicities: | UK, Dutch |
PCR Assay: | Forced TaqI + | Comments: | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | Ins GGACC (rpt), term at 439 |
AA Change: | FsR395 | Ethnicities: | Japanese |
PCR Assay: | RsrII +, Sizing | Comments: | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | del TC (or TC) at 1204 (or 1205) |
AA Change: | FsF381 | Ethnicities: | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | A378T | Ethnicities: | Italian (Nuoro) Canadian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | T383P | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | A378S | Ethnicities: | Canadian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | FsK390 | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | Y398X | Ethnicities: | Belgian |
PCR Assay: | RsaI - | Comments: | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | D394H | Ethnicities: | Belgian |
PCR Assay: | Fnu4HI + | Comments: | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | L380V | Ethnicities: | Norwegian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | L393R | Ethnicities: | French Chinese |
PCR Assay: | BsmFI - | Comments: | Chinese 7.1%; Class 5 |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | V415A | Ethnicities: | Dutch Danish |
PCR Assay: | MscI - | Comments: | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | L411V | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | D424E | Ethnicities: | Finnish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | W422C | Ethnicities: | French American German S.African (English) Dutch |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | I420M | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | R385Q | Ethnicities: | S.African (black) |
PCR Assay: | MspI - | Comments: | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | T413K | Ethnicities: | Algerian Spanish |
PCR Assay: | Comments: | 35% internalisation and 40% degradation, 40% binding, | |
Activity: | 40% LDLR activity |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | N407K | Ethnicities: | S.African Jewish Dutch |
PCR Assay: | MaeII - | Comments: | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | A410T | Ethnicities: | Algerian Japanese Dutch |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | E387K | Ethnicities: | Algerian French American English Asian Indian S. African (black) Swedish |
PCR Assay: | BssSI - | Comments: | In cis with G>T at -175 (-279 on gene map) (#374) in S.A patient |
Activity: | <2% LDLR activity |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | R385W | Ethnicities: | Ashkenazi Jewish from Romania |
PCR Assay: | MspI -, HpaII - | Comments: | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | I402T | Ethnicities: | Swedish French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | D412Y | Ethnicities: | Dutch |
PCR Assay: | Forced RsaI + | Comments: | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | R395W | Ethnicities: | UK American Spanish Dutch Norwegian Czech German |
PCR Assay: | MspI - | Comments: | 9/742 Norwegian |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | I420N | Ethnicities: | Russian |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 9 (EGF spacer) | Detail: | |
AA Change: | R395Q | Ethnicities: | German S.African (European) |
PCR Assay: | MspI - | Comments: | |
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | Ins 1187-10 to 1272 |
AA Change: | FsN404 | Ethnicities: | Czech |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 9 (EGF spacer) | Detail: | >16aa-term |
AA Change: | FsE414 | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 9 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 9 | Detail: | del GTGCTGATG/Ins CGGCT at consensus splice branch |
AA Change: | splice branch point | Ethnicities: | English |
PCR Assay: | Comments: | 3mRNA species, base change at our -29 from ex10 as a T is missing from the sequence between 1331-1332 | |
Activity: |
Location: | intron 9 | Detail: | AGGTGA > AGATGA, S432>R and term |
AA Change: | 5' splice donor | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 9 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | Dutch Belgian |
PCR Assay: | Comments: | 69% Mid South Netherlands | |
Activity: |
Location: | int 9-int 14 (i09) | Detail: | Dup G375-T692 |
AA Change: | Ethnicities: | Italien | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 9-int 12 (i09) | Detail: | E594-3aa-term |
AA Change: | Ethnicities: | Turkish | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | FsS443 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | D461N | Ethnicities: | N.Irish |
PCR Assay: | Forced HinfI + | Comments: | 8% in N.Ireland |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | I452N | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | Del AG, term at 438 |
AA Change: | FsR437 | Ethnicities: | Italian Austrailian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | S478P | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF Spacer) | Detail: | |
AA Change: | D504V | Ethnicities: | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | Ins ACAT, >62aa-term |
AA Change: | FsQ453 | Ethnicities: | Italian English |
PCR Assay: | Comments: | All share D19S394 allele 251bp | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | D451G | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | Del AAC |
AA Change: | dN466 | Ethnicities: | Norwegian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | K497E | Ethnicities: | Czech |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | W462R | Ethnicities: | English Irish |
PCR Assay: | MspI + | Comments: | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | W469X | Ethnicities: | American German Norwegian |
PCR Assay: | RmaI + | Comments: | |
Activity: | <2% LDLR activity |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | I462N | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | K488E | Ethnicities: | Dutch |
PCR Assay: | Forced HinfI + | Comments: | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | G457R | Ethnicities: | Afrikaner Finnish American (black) Chinese(Hong Kong) Slovenian |
PCR Assay: | Comments: | Class 2B/5 | |
Activity: | 2-5% LDLR activity |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | L458P | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | Ins CAGA, >9aa-term |
AA Change: | FsA438 | Ethnicities: | UK |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | D461H | Ethnicities: | UK |
PCR Assay: | Comments: | Not infrequent in UK. | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | FsS465 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | D471N | Ethnicities: | Austrian Chinese (Hong Kong) |
PCR Assay: | XcmI + | Comments: | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | I467N | Ethnicities: | Italian Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | Del CTGTGGACTGG, stop at 509 |
AA Change: | FsA459 | Ethnicities: | Italian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | D471H | Ethnicities: | UK |
PCR Assay: | HinfI - | Comments: | |
Activity: |
Location: | exon 10 (EGF Spacer) | Detail: | |
AA Change: | FsT489 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | Ins GACA, >8aa-term |
AA Change: | FsL435 | Ethnicities: | UK Austrailian |
PCR Assay: | Sizing | Comments: | Southampton 1/100; London 4/300 |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | S496P | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | Del GG |
AA Change: | FsG495 | Ethnicities: | Dutch |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | Del GTGGTGGAT |
AA Change: | delV502-P505 | Ethnicities: | Sephardic Jewish |
PCR Assay: | BamHI -, Sizing | Comments: | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | H464R | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: | 15-30% LDLR activity |
Location: | exon 10 (EGF spacer) | Detail: | Del TCT, ins AGAGACA, >48aa-term |
AA Change: | FsV477 | Ethnicities: | Tunisian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | FsD451 | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | W462X | Ethnicities: | Chinese Austrian |
PCR Assay: | BamHI - | Comments: | |
Activity: |
Location: | exon 10 (EGF Spacer) | Detail: | |
AA Change: | P505S | Ethnicities: | American English |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | Y468X | Ethnicities: | French-Canadian |
PCR Assay: | BfaI + | Comments: | |
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | FsD456 | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 10 (EGF spacer) | Detail: | Del CT, term at 533 |
AA Change: | FsS472 | Ethnicities: | German Italian Austrian Iranian-Armenian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 10 (EGF Spacer) | Detail: | |
AA Change: | V502M | Ethnicities: | Kuwaiti Italian Dutch Korean |
PCR Assay: | Comments: | ||
Activity: | 12-30% LDLR activity |
Location: | exon 10 (EGF spacer) | Detail: | |
AA Change: | L490S | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 10 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Swedish Danish |
PCR Assay: | Comments: | Skipping of exon 10 | |
Activity: |
Location: | intron 10 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Italian |
PCR Assay: | Comments: | 2 mRNA species | |
Activity: | <3% LDLR activity |
Location: | int 10-int 16 (i10) | Detail: | |
AA Change: | Ethnicities: | Finnish | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | int 10-int 14 (i10) | Detail: | |
AA Change: | Ethnicities: | Chinese | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | int 10-int 12 (i10) | Detail: | |
AA Change: | Ethnicities: | Dutch | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 10-int 12 (i10) | Detail: | Del G508-48aa-term |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF Spacer) | Detail: | |
AA Change: | G528D | Ethnicities: | Italian Greek Austrian S.African (European) Sicilian |
PCR Assay: | Comments: | Class 2A; 5.6% Italian | |
Activity: | <2% LDLR activity |
Location: | exon 11 (EGF spacer) | Detail: | >16aa-term |
AA Change: | FsN543 | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF Spacer) | Detail: | Term at 546 |
AA Change: | FsD515 | Ethnicities: | American |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 11 (EGF Spacer) | Detail: | |
AA Change: | G525D | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 11 (EGF Spacer) | Detail: | |
AA Change: | G544V | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | FsG528 | Ethnicities: | Dutch |
PCR Assay: | HinfI + | Comments: | |
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | D514Y | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | Term at 546 |
AA Change: | FsG528 | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | W512X | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | N543S | Ethnicities: | Polish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF Spacer) | Detail: | in frame |
AA Change: | del M510-T521 | Ethnicities: | Korean |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | Ins GCTGGTGA, term after 2 aa |
AA Change: | FsT536 | Ethnicities: | Czech |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | Del 1640-52 and ins at 1639 |
AA Change: | FsL526 | Ethnicities: | Finnish |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | G528V | Ethnicities: | French Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF Spacer) | Detail: | |
AA Change: | FsT536 | Ethnicities: | Korean |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | A519T | Ethnicities: | UK German Icelandic |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | >5aa-term |
AA Change: | FsI531 | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF Spacer) | Detail: | in frame |
AA Change: | del T513-W515 | Ethnicities: | Korean |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | L547V | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | N543H | Ethnicities: | French Danish Dutch UK German American |
PCR Assay: | NcoI + | Comments: | Found on same LDLR allele as 225 |
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | G544A | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | P542H | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | W541X | Ethnicities: | Norweigian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | |
AA Change: | L534P | Ethnicities: | Chinese |
PCR Assay: | MspI + | Comments: | |
Activity: |
Location: | exon 11 (EGF spacer) | Detail: | E594-15aa-term |
AA Change: | Q540X | Ethnicities: | Asian Indian |
PCR Assay: | Comments: | ||
Activity: | 52% LDLR activity |
Location: | exon 11 (EGF spacer) | Detail: | Del CACCCTA/insGC - ITL545MPN |
AA Change: | FsI545 | Ethnicities: | Spanish |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | intron 11 | Detail: | |
AA Change: | 3' splice site | Ethnicities: | Spanish Italian (Nuoro) |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 11 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Norwegian |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 11 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | Chinese (Hong Kong) |
PCR Assay: | Comments: | Class 1 | |
Activity: |
Location: | intron 11 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | Del CCGGAAG, >68aa-term |
AA Change: | FsN573 | Ethnicities: | German |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | P587R | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | Del TT, term at 600 |
AA Change: | FsF593 | Ethnicities: | Belgian |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | A585S | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | A585T | Ethnicities: | Austrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | L584P | Ethnicities: | Korean French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | S551N | Ethnicities: | Dutch |
PCR Assay: | DdeI - | Comments: | |
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | I577L | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | H562Y | Ethnicities: | Chinese German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | R574Q | Ethnicities: | Japanese |
PCR Assay: | MspI - | Comments: | |
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | P587L | Ethnicities: | UK Belgian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF Spacer) | Detail: | |
AA Change: | FsG572 | Ethnicities: | Chinese (Hong Kong) |
PCR Assay: | Comments: | Class 1 | |
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | Del 7 CGGAAGA, >67aa to term |
AA Change: | FsR574 | Ethnicities: | German |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | D558Y | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | T576N | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | L554F | Ethnicities: | Korean |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | R553C | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | I577N | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF Spacer) | Detail: | |
AA Change: | W556X | Ethnicities: | Russian |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | W556S | Ethnicities: | Danish |
PCR Assay: | Forced TaqI + | Comments: | |
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | Del GTGGC and ins A |
AA Change: | FsS551 | Ethnicities: | |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 12 (EGF Spacer) | Detail: | |
AA Change: | FsS551 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | FsD580 | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | R574W | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | P587S | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF Spacer) | Detail: | |
AA Change: | FsS563 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | L590F | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | P587T | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF Spacer) | Detail: | |
AA Change: | FsD558 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | 1 to 5 G ins in different members of the family |
AA Change: | FsG571 | Ethnicities: | Japanese |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | >71aa-term |
AA Change: | FsG572 | Ethnicities: | N.Irish Italian |
PCR Assay: | Comments: | Cholesterol reduced in B-thal Q39X carriers | |
Activity: |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | L578S | Ethnicities: | English |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | S589F | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF Spacer) | Detail: | |
AA Change: | G571E | Ethnicities: | Italian German Polish Austrian Belgian Flemish-Walloon |
PCR Assay: | Comments: | ||
Activity: | 5-15% LDLR activity |
Location: | exon 12 (EGF spacer) | Detail: | |
AA Change: | K575X | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 12 (EGF Spacer) | Detail: | Ins GTC (GTG on our seq) |
AA Change: | ins V558 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 12 (EGF spacer) | Detail: | Del TT, >19aa-term |
AA Change: | FsL561 | Ethnicities: | Swedish |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 12 (EGF Spacer) | Detail: | |
AA Change: | D558N | Ethnicities: | American Danish Swedish |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | intron 12 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 12 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Japanese French |
PCR Assay: | Forced BsaHI + | Comments: | 13.3% Japanese |
Activity: | <2% LDLR activity |
Location: | intron 12 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Tunisian |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 12 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | Danish Italian Tunisian French |
PCR Assay: | MseI +; ARC DdeI + | Comments: | 3 mRNA species |
Activity: | 15% LDLR activity |
Location: | int 12-int 14 (i12) | Detail: | |
AA Change: | Ethnicities: | Canadian | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | int 12-int 15 (i12) | Detail: | Q749+28aa-term |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | int 12-int 14 (i12) | Detail: | |
AA Change: | Ethnicities: | Italian Canadian | |
PCR Assay: | Comments: | Also called FH-Chieti/Macerata | |
Activity: | <2% (43-50% Bertolini et al) LDLR activity, |
Location: | int 12-int 14 (i12) | Detail: | |
AA Change: | Ethnicities: | UK | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 12-int 14 (i12) | Detail: | |
AA Change: | Ethnicities: | Dutch | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | int 12-int 14 (i12) | Detail: | |
AA Change: | Ethnicities: | English | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | int 12-int 18 (i12) | Detail: | |
AA Change: | Ethnicities: | Sicilian | |
PCR Assay: | Comments: | Truncated protein | |
Activity: | <2% LDLR activity |
Location: | int 12-int 14 (i12) | Detail: | Del Glu594-15aa-term |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 12-int 15 (i12) | Detail: | |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | Various splicings | |
Activity: |
Location: | ex 13-int 15 (e13) | Detail: | |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | Various splicings | |
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | R612C | Ethnicities: | UK Dutch |
PCR Assay: | Forced Alu I + | Comments: | |
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | F634L | Ethnicities: | Spanish |
PCR Assay: | Assay | Comments: | |
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | FsL626 | Ethnicities: | UK |
PCR Assay: | Comments: | Complex rearrangement | |
Activity: |
Location: | exon 13 (EGF Spacer) | Detail: | duplication of 5 nt |
AA Change: | FsD630 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF Spacer) | Detail: | |
AA Change: | F598C | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF Spacer) | Detail: | |
AA Change: | V632C | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | P640L | Ethnicities: | Belgian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | >18aa-term |
AA Change: | FsP628 | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | F598L | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | W599R | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | N604T | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | M631V | Ethnicities: | S.African |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | FsG642 | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | P628L | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | V618D | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF Spacer) | Detail: | |
AA Change: | FsN624 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | Q639X | Ethnicities: | Flemish |
PCR Assay: | RmaI + | Comments: | |
Activity: |
Location: | exon 13 (EGF Spacer) | Detail: | |
AA Change: | D630Y | Ethnicities: | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | A606T | Ethnicities: | Chinese |
PCR Assay: | Comments: | Class 5 | |
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | T638P | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | FsF634 | Ethnicities: | Japanese |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | D601Y | Ethnicities: | Flemish |
PCR Assay: | EcoRV - | Comments: | |
Activity: |
Location: | exon 13 (EGF Spacer) | Detail: | |
AA Change: | F598S | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 13 (EGF Spacer) | Detail: | |
AA Change: | A606V | Ethnicities: | Chinese (Hong Kong) |
PCR Assay: | Comments: | Class 5 | |
Activity: |
Location: | exon 13 (EGF spacer) | Detail: | |
AA Change: | G615D | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 13-int 15 (i12) | Detail: | Del repeat C |
AA Change: | Ethnicities: | Finnish | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (OLS) | Detail: | |
AA Change: | G693K | Ethnicities: | Japanese Korean |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | >37aa-term |
AA Change: | FsY658 | Ethnicities: | Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | G654S | Ethnicities: | Austrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | D679E | Ethnicities: | Spanish Belgian |
PCR Assay: | Comments: | Awaiting base change | |
Activity: |
Location: | exon 14 (repeat C) | Detail: | >21aa-term |
AA Change: | FsI666 | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | G642E | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C646W | Ethnicities: | Danish German French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | Term at 701 |
AA Change: | FsT674 | Ethnicities: | Spanish |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C646Y | Ethnicities: | French Canadian Dutch Spanish |
PCR Assay: | Comments: | 5% French Canadian FH | |
Activity: | <2% LDLR activity |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | A663T | Ethnicities: | Chinese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | P664S | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | Term at 707 |
AA Change: | FsC677 | Ethnicities: | American S.African (European) Greek-French |
PCR Assay: | Comments: | ||
Activity: | 35-45% LDLR activity |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | L661P | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C660X | Ethnicities: | Christian Lebanese Syrian French Austrailian S. African (European) English |
PCR Assay: | HinfI + | Comments: | |
Activity: | <2% LDLR activity |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | Q657X | Ethnicities: | El Salvador |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C656R | Ethnicities: | American |
PCR Assay: | HaeII + | Comments: | |
Activity: | 15-30% LDLR activity |
Location: | exon 14 (repeat C) | Detail: | Del CAGTATCTGTGC |
AA Change: | del Q657-C660 | Ethnicities: | Dutch |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C646R | Ethnicities: | Syrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | >36aa-term |
AA Change: | FsT650 | Ethnicities: | Chinese |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | Q665X | Ethnicities: | Polish |
PCR Assay: | AciI - | Comments: | |
Activity: |
Location: | exon 14 (repeat C) | Detail: | Del CCCT, >25aa-term |
AA Change: | FsL661 | Ethnicities: | Polish |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C660S | Ethnicities: | UK |
PCR Assay: | BsmFI - | Comments: | |
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | P678L | Ethnicities: | German Dutch Belgian |
PCR Assay: | mspI - | Comments: | |
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C646F | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | FsC656 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | >40aa-term |
AA Change: | FsG654 | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C660Y | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | Ins TGCTGGC |
AA Change: | FsR685 | Ethnicities: | UK Chinese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | FsL651 | Ethnicities: | Chinese |
PCR Assay: | DdeI - | Comments: | |
Activity: |
Location: | exon 14 (repeat C) | Detail: | Del GCCCCGCAGATCAA |
AA Change: | FsA663 | Ethnicities: | Dutch |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C656F | Ethnicities: | Chinese (Hong Kong) |
PCR Assay: | Comments: | Class 2B | |
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | FsH669 | Ethnicities: | Czech |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C677F | Ethnicities: | |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | W645L | Ethnicities: | Austrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C675W | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | W645X | Ethnicities: | Austrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C646X | Ethnicities: | Swedish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C677Y | Ethnicities: | Austrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | Del CAGATCAACCCCC, >18aa-term |
AA Change: | FsQ665 | Ethnicities: | Dutch |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | C675Y | Ethnicities: | Chinese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 14 (repeat C) | Detail: | |
AA Change: | P664L | Ethnicities: | worldwide recurrent |
PCR Assay: | PstI + | Comments: | England 2% |
Activity: | ~20% LDLR activity |
Location: | intron 14 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | S. African |
PCR Assay: | DdeI + | Comments: | |
Activity: | <2% LDLR activity |
Location: | intron 14 | Detail: | |
AA Change: | splice defect? | Ethnicities: | Dutch Austrian |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 14 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | UK |
PCR Assay: | AluI + | Comments: | Class 1 |
Activity: |
Location: | intron 14 | Detail: | |
AA Change: | 5' splice site | Ethnicities: | Ashkenazi Jewish from Hungary |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 14-int 17 (i14) | Detail: | Out of frame, term codon 2aa from ex17-14 junction |
AA Change: | Ethnicities: | N. American | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 14-int 15 (i14) | Detail: | Del E693-Q749 |
AA Change: | Ethnicities: | Japanese | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 14-int 15 (i14) | Detail: | Del E693-Q749 |
AA Change: | Ethnicities: | Finnish | |
PCR Assay: | Comments: | ||
Activity: | 70% LDLR activity |
Location: | int 14-int 17 (i15) | Detail: | |
AA Change: | Ethnicities: | English | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | exon 15 (OLS) | Detail: | |
AA Change: | Q749X | Ethnicities: | Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 15 (OLS) | Detail: | |
AA Change: | R723Q | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 15 (OLS) | Detail: | |
AA Change: | T705I | Ethnicities: | French American Danish Dutch English |
PCR Assay: | Forced NsiI + | Comments: | Silent variation not mutation |
Activity: |
Location: | exon 15 (OLS) | Detail: | |
AA Change: | T721I | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 15 (OLS) | Detail: | |
AA Change: | FsV715 | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 15 (OLS) | Detail: | >1aa-term |
AA Change: | FsI743 | Ethnicities: | Irish European |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 15 (OLS) | Detail: | Term after aa 759 |
AA Change: | FsS712 | Ethnicities: | Japanese |
PCR Assay: | Comments: | Cellular studies available | |
Activity: |
Location: | exon 15 (OLS) | Detail: | |
AA Change: | FsE702 | Ethnicities: | Germany |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 15 (OLS) | Detail: | |
AA Change: | E702X | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 15 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Italian |
PCR Assay: | Comments: | 3 mRNA species | |
Activity: | 12% LDLR activity |
Location: | int 15-int 16 (i15) | Detail: | Del A750-I775 |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | ||
Activity: | 45-60% LDLR activity |
Location: | int 15-int 17 (i15) | Detail: | |
AA Change: | Ethnicities: | Italian | |
PCR Assay: | Comments: | Various splicings | |
Activity: | 20% LDLR activity |
Location: | int 15-ex 18 (i15) | Detail: | |
AA Change: | Ethnicities: | Japanese | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | int 15-int 16 (i15) | Detail: | Del A750-I775 |
AA Change: | Ethnicities: | Dutch | |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 15-ex 18 (i15) | Detail: | Del A750+ |
AA Change: | Ethnicities: | American | |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | int 15-ex 18 (i15) | Detail: | Del A750+ |
AA Change: | Ethnicities: | Japanese | |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | int 15-int 17 (i15) | Detail: | |
AA Change: | Ethnicities: | French | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | int 15-ex 18 (i15) | Detail: | Del A750+55aa-term |
AA Change: | Ethnicities: | Finnish | |
PCR Assay: | Comments: | Finnish (30-40%) | |
Activity: | 40-50% LDLR activity |
Location: | exon 16 (MS) | Detail: | |
AA Change: | S765C | Ethnicities: | S.African (Indian) |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 16 (MS) | Detail: | Del GACGTTGCTGGCAGAGGAAAT |
AA Change: | delD753-N759 | Ethnicities: | Japanese |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 16 (MS) | Detail: | |
AA Change: | I771F | Ethnicities: | Russian |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 16 (MS) | Detail: | |
AA Change: | V776M | Ethnicities: | Cuban Afrikaner Chinese (Hong Kong) |
PCR Assay: | NlaIII + | Comments: | Class 1/4 |
Activity: |
Location: | exon 16 (MS) | Detail: | Del GAAGA, term at 765 |
AA Change: | FsE760 | Ethnicities: | Dutch |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 16 (MS) | Detail: | |
AA Change: | V776L | Ethnicities: | Dutch |
PCR Assay: | Comments: | ? splicing | |
Activity: |
Location: | intron 16 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | UK Italian |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 16 | Detail: | |
AA Change: | 5' splice donor | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 16 | Detail: | |
AA Change: | 3' splice site | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 16 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | Icelandic |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 16 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | int 16-int 17 (i16) | Detail: | |
AA Change: | Ethnicities: | Danish | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | int 16-3'UTR (i16) | Detail: | |
AA Change: | Ethnicities: | American | |
PCR Assay: | Comments: | ||
Activity: | 2-5% LDLR activity |
Location: | int 16-int 17 (i16) | Detail: | |
AA Change: | Ethnicities: | Canadian | |
PCR Assay: | Comments: | Truncated protein | |
Activity: |
Location: | exon 17 (CT) | Detail: | |
AA Change: | N804K | Ethnicities: | Danish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 17 (CT) | Detail: | |
AA Change: | G823D | Ethnicities: | Finnish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 17 (CT) | Detail: | |
AA Change: | Y807C | Ethnicities: | Italian Syrian |
PCR Assay: | Comments: | ||
Activity: | <2% LDLR activity |
Location: | exon 17 (CT) | Detail: | Del AGCATCAAC |
AA Change: | del S799-N801 | Ethnicities: | UK |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 17 (CT) | Detail: | |
AA Change: | V806I | Ethnicities: | American Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 17 (CT) | Detail: | |
AA Change: | FsV785 | Ethnicities: | UK |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 17 (CT) | Detail: | |
AA Change: | W792X | Ethnicities: | Bahrainian French Danish |
PCR Assay: | Comments: | France, Saudi Arabia (different haplotype) | |
Activity: |
Location: | exon 17 (CT) | Detail: | |
AA Change: | N804K | Ethnicities: | Spanish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 17 (CT) | Detail: | Term after 9aa |
AA Change: | FsV785 | Ethnicities: | Swedish |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 17 (CT) | Detail: | |
AA Change: | R793Q | Ethnicities: | S.African (black) American |
PCR Assay: | AluI + | Comments: | |
Activity: |
Location: | exon 17 (CT) | Detail: | |
AA Change: | K790X | Ethnicities: | Japanese |
PCR Assay: | MboII - | Comments: | |
Activity: |
Location: | exon 17 (CT) | Detail: | >104aa-term |
AA Change: | FsP805 | Ethnicities: | Chinese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 17 (CT) | Detail: | |
AA Change: | C785D | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 17 (CT) | Detail: | Del TCCTCGTCT |
AA Change: | dL778-F780 | Ethnicities: | American Danish Dutch |
PCR Assay: | Comments: | Found on same LDLR allele as #168 (N543H);67% W.Friesland Dutch population | |
Activity: |
Location: | exon 17 (CT) | Detail: | 1 to 5 G ins in the same family (Japanese) |
AA Change: | FsV785 | Ethnicities: | French Japanese |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 17 (CT) | Detail: | |
AA Change: | FsL787 | Ethnicities: | Dutch |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | exon 17 (CT) | Detail: | Ins AGAA, >8aa-term |
AA Change: | FsN796 | Ethnicities: | French |
PCR Assay: | Comments: | ||
Activity: | 2-5% LDLR activity |
Location: | exon 17 (CT) | Detail: | |
AA Change: | dup C782-L787 | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | intron 17 | Detail: | |
AA Change: | 3' splice acceptor | Ethnicities: | Dutch |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 18 (CT) | Detail: | |
AA Change: | R829G | Ethnicities: | German |
PCR Assay: | Comments: | ||
Activity: |
Location: | exon 18 (CT) | Detail: | >79aa-term |
AA Change: | FsQ830 | Ethnicities: | Polish Costa Rican |
PCR Assay: | Comments: | ||
Activity: |
Location: | complex (i00) | Detail: | |
AA Change: | Ethnicities: | Portugese | |
PCR Assay: | Comments: | ||
Activity: |
Location: | complex (i02) | Detail: | |
AA Change: | Ethnicities: | ||
PCR Assay: | Comments: | ||
Activity: |
Location: | exon16 (MS) | Detail: | |
AA Change: | FsL751 | Ethnicities: | |
PCR Assay: | Sizing | Comments: | |
Activity: |
Location: | prom-int 6 (prom) | Detail: | |
AA Change: | Ethnicities: | Italain | |
PCR Assay: | Comments: | ||
Activity: |