Tabulation of Large Scale Deletions and Insertions

Click on the name field for further information on breakpoints.

NameSiteExons AffectedClassNationalities ActivityReferences
French Canadian-1 5'FR-In1 Del prom, e1
(15kb)
1 French Canadian (60%) <2% Hum Mut 1:445; J Clin Invest 85;1014; N Engl J Med 326;69; Arterioscler Thromb Vasc Biol 14:85; Clin Genet 52:1
Denver-1 5'FR-In1 Del prom, e1
(6kb)
1 American <2% J Clin Invest 81:909; Hum Mutat 1:445; Arterioscler Thromb Vasc Biol 14:85
Valencia-5 5'FR-In1 Del prom, e1
(18kb)
1 Spanish NR FH Workshop 97
Siracusa 5'FR-In2 Del prom, e1-2
(20kb)
1 Italian 50% Atheroscler 121;105
Valencia-1 5'FR-In2 Del prom, e1-2
(20kb)
1 Spanish NR FH Workshop 97
Bologna-1 5'FR-In6 Del prom, e1-6
(25kb)
1 Italian & English 40-50% Atheroscler 83:127; Arterioscler Thromb 11:234; Arterioscler Thromb 12:762; Hum Mut 1:445
Amsterdam-1 In01-In10 Del e2-10
(22kb)
NR Dutch NR Chapter 5; FH Workshop 97
Pavia In01-In12 Del e2-12
(24kb)
1 Italian 45-55% Am J Hum Genet 51:123; Hum Mutat 1:445
Tonami-2/Osaka-3 In01-In3 Del e2-3
(10kb)
(3) Japanese NR Circulation SII:278; Hum Mutat 1:445; J Biochem 113:372
Kanazawa In01-In4 Del e2-3(4)
(12kb)
NR Japanese NR J Intern Med 227:247; Ann NY Acad Sci 598:393; Hum Mut 1;445
French Canadian-5 In01-In3 Del e2-3
(5kb)
(3) French Canadian (5%) NR Clin Genet 36:219; J Clin Invest 85:1014; Hum Mutat 1:445; J Biol Chem 270:25166
Tsukuba-1 In01-In3 Del e2-3
(5kb)
(3) Japanese NR Hum Genet 82:317; Hum Mutat 1:445
Aarhus-4 In01-In5 Del e2-5
(2kb)
NR Danish
FH Workshop 97
St Louis In01-In8 Ins e2-8 (Ins V2-V374)
(14kb)
3 American 5-15% Cell 48:427; Hum Mutat 1:445
Vancouver-5 In01-In6 Del e2-6
(9.5kb)
NR Canadian NR Am J Hum Genet 43:60; Hum Mutat 1:445; Arterioscler Thromb 12:762; J Lipid Res37:368
Vancouver-4 In01-In6 Del e2-6
(10kb)
NR Canadian NR Am J Hum Genet 43:60; Hum Mut 1:445
Valencia -3 In02-In4 Ins e3-4 (Dupl S44-C210)
(3.8kb)
NR Spanish NR FH Workshop 96
Paris-2 In02-In5 Ins e3-5 (Ins S44-N251)
(7kb)
3 French NR Hum Genet 80:371; Ann Rev Genet 24:133; Hum Mutatt 1:445
Aarhus-2 In02-In6 Del e3-6
(9kb)
NR Danish NR Clin Genet 39:451; Hum Mutat 1:445
No name In02-In8 Del e3-8
(11kb)
NR Canadian; Dutch NR Am J Hum Genet 43:60; Hum Mutat 1:445; Chapter 5; EAS pg18
Amsterdam-2 In03-In8 Del e3-8
(10kb)
NR Dutch NR FH Workshop 97
Alkmaar-1 In03-In8 Ins e3-8 (Dupl S44-V374)
(10kb)
NR Dutch NR FH Workshop 97
Massa In02-In10 Del e3-10 & Del e3-12
(12kb)
1 Italian 70% Am J Hum Genet 51:123; ATVB 15:81
Valencia -2 In02-In14 Ins e3-14 (Dupl S44-T692)
(17kb)
NR Spanish NR FH Workshop 96
Vancouver-6 In03-In6 Del e4-6
(5kb)
NR Canadien NR Am J Hum Genet 43:60; Hum Mutat 1:445; Clin Gneet 51:286
Valencia-4 In03-In6 Del e4-6
(4.2kb)
NR Spanish NR FH Workshop 96
Caltanissetta In03-In6 Ins e3-6 (Dupl S44-C292)
(7kb)
NR Italian 70% Med Genetik 9:355; JLR 39:1466
Paris-1 In04-In5 Del e5
(0.8kb)
3 French <2% J Biol Chem 261:13114; Hum Mutat 1:445; Chapter 5; Arterioscler Thromb Vasc Biol 14:85
London-2 In04-In5 Del e5
(0.7kb)
(3) English NR J Med Genet 24:144; Hum Mutat 1:445; Arterioscler Thromb Vasc Biol 12:762 & 17:3092; Atheroscler 136:175
Aarhus-3 In04-In5 Del e5
(1kb)
(3) Danish NR Eur J Biochem 198:107; Clin Genet 39:451; Hum Mutat 1:445
No name Ex5 at 704 Del e5 (T214-D242)
(87bp)
(3) German 40% Clin Genet 45:84
Oula-1 In06-In10 Del e7-10
(7.5kb)
NR Finnish NR Ann Med 24:363; J Intern Med 231:227; Hum Mutat 1:445
Osaka-2 In06-In14 Del e7-14
(12kb)
3 and 5 Japanese (English) <2% JBC 264:16584; J Intern Med 227:247; Arterioscler Thromb 12:762; Hum Mut 1:445
London-7 In06-In14 Del e7-14
(10/11kb)
NR Asian Indian NR Arterioscler Thromb 12:762; Hum Mutat 1:445
Leiden-1 (Leuven-1) In06-In8 Del e7-8
(4kb)
3 and 5 Dutch (10%) <2% Cold Spring Harbour Symp Quart Biol 51:811; Atheroscler 83:127; Hum Mutat 1:445; Hum Genet 96:401
Cape-Town-2 In06-In08 Del e7-8
(2.5kb)
NR South African 2-5% Hum Genet 80:371; Biochem J 278:677; Hum Mutat 1:445; Arterioscler Thromb 12:762; Chapter 5
Salerno In09-In14 Ins e9-14 (Dup G375-T692)
(10kb)
NR Italian 47% JLR 35:1422
London-8 In06-In08 Ins e7-8 (Dupl G293-V374)
(4kb)
NR Polish in UK NR Arterioscler Thromb 12:762; Hum Mutat 1:445
London-3 In06-In07 Del e7
(1kb)
NR English NR J Med Genet 24:144; ATVB 12:762; Hum Mutat 1:445
Reykjavik In08-In10 Del e9-10
(2kb)
NR, truncated protein Icelandic NR J Med Genet 26:494; Hum Mutat 1:445
Leiden-3 (Leuven-3) In08-In12 Ins e9-12 (Dupl E594-16aa-term)
(4.4kb)
NR Dutch NR Atheroscler 83:127; Hum Mutat 1:445
Oulu-2 In10-In16 Del e11-16
(13kb)
NR, truncated protein Finnish NR Ann Med 24:363; J Intern Med 231:227; Hum Mutat 1:445
Genoa-1 In10-In12 Del e11-12
(13kb)
NR Italian 46% ATVB 15:81
Leiden-4 In11-Int12 Ins i11-e12-i112
(7kb)
NR Dutch NR LDLR Workshop 96
Catania In11-3'FR Del e12-18
(25kb)
NR Italian 42% FH Workshop 1997
London-1 In12-In14 Del e13-14
(4kb)
1 English NR J Med Genet 24:144
Vancouver-1 In12-In14 Del e13-14
(4.5kb)
(1)/truncated protein Canadian NR Hum Genet 43:60; Hum Mutat 1:445
Italy-1 (Chieti/Macerata) In12-In14 Del e13-14
(3.7kb)
1 Italian-Canadian 43-50% JCI 81:909; Arterioscler Thromb 11:234; Hum Mutat 1:445; Arterioscler Thromb Vasc Biol 15:81
Bologna-2 In12-In15 Ins e13-15
(7kb)
NR, truncated protein Italian <2% Hum Genet 86;359; Hum Mutat 1:445
Roma In12-In14 Del e13-14
(4.7kb)
1 Italian 52% ATVB 15:81; FH Workshop 97
Amsterdam-4 In12-In14 Del e13-14
(4kb)
NR, truncated protein NR NR FH Workshop 97
Potenza-1 Ex13-In15 Del e13-15
(4.5kb)
1 Italian <2(40)% PNAS 83;3679; Hum Mutat 1:445; J Lipid Res 92:1347
Tonami-1 In14-In15 Del e15 (del E693-Q749)
(6kb)
NR Japanese NR Arterioscler 8:187; Ann NY Acad Sci 598:393; Hum Mutat 1:445
Espoo In14-In15 Del e15 (del E693-Q749)
(6kb)
NR Finnish
Arterioscler 13:1680; Ann Med 24:363; Hum Mutat 1:445; Arterioscler Thromb 13:1460
London-9 In14-In18 Del e15-18
(10.5kb)
NR, truncated protein English NR Arterioscler Thromb 12:762; Hum Mutat 1:445
Padova-2 In15-In16 Del e16-17
(2kb)
NR Italian 45-60% ATVB 15:81; FH Workshop 97; FH Workshop 97
Viterbo In15-In17 Ins e16-17
(5.5kb)
NR Italian NR(20%) Arterioscler Thromb 11:234; Hum Mutat 1:445; FH workshop 97
Tsukuba-2 In15-In17 Del e16-17
(4kb)
NR, truncated protein Japanese NR Hum Genet 82:317; Hum Mutat 1:445
Helsinki In15-In17 Del e16-18
(9.5kb)
4B Finnish (30-40%) 40-50% FEBS 234:411; J Intern Med 231:227; Clin Genet 42:288; Hum Mut 1:445
Osaka-1 In15-Ex18 Del e16-18
(7.8kb)
4B Japanese <2% JBC 262:3354; Hum Mutat 1:445
Rochester In15-Ex18 Del e16-18
(5.5kb)
4B American <2% Science 227:140; Hum Mutat 1:445
Leiden-2 (Leuven-2) In15-In16 Del e16 (del A750-I775)
(0.4kb)
NR Dutch NR Atheroscler 83:127; Hum Mutat 1:445
Vancouver-3 In16-In17 Del e17
(1.4kb)
NR, truncated protein Canadian NR Hum Genet 43:60; Hum Mutat 1:445
Aarhus-1 In16-In17 Del e17
(2kb)
NR, truncated protein Danish NR Clin Genet 39:451; Hum Mutat 1:445
Baltimore-2 In16-3'FR Del e17-18
(10kb)
2B, truncated protein American 2-5% Ann Rev Genet 24:133; Hum Mutat 1:445
Portugal In07-In12 Ins e7-12
(5kb)
NR Portugese NR J Clin Invest 81:909
No name In06-In08 Del e7-8
(3.83kb)
NR Korean NR Hum Genet 99:155
No name In08-In12 Del e9-12
(5.71kb)
NR, truncated protein Korean NR Hum Genet 99:155
No name In05-In13 Del e6-13 (del V252-R641)
(10.3-11.2kb)
NR N. American NR e-mail sub 1999
No name In08-Ex9 Ins 96 at 1187-10
(96bp)
NR Czech NR e-mail sub 1999
No name In13-In17 Ins e14-17
()
NR N. American NR e-mail sub 1999
No name In06-3'FR Ins e7-18
(20kb)
NR UK NR e-mail sub 1999; submitted
No name In06-In08 Del e7-8
(3kb)
NR Belgian NR Hum Genet 102:562
Amsterdam-5 In06-In11 Del e7-10
(6.3kb)
NR, truncated protein Dutch NR MEDPED 98
Okayama In06-In14 Del e7-14
(13kb)
3 Japanese NR J Intern Med 227:247; Ann NY Acad Sci 598:393
No name In13-In15 Del e14-15
(5kb)
NR Finnish NR ATVB 17:1392
No name In15-In17 Del e16-17
(2kb)
NR French NR Clin Invest 72:898
No name In01-In5 Ins e2-5
(14kb)
NR French NR Clin Invest 72:898
No name In06-In12 Ins e7-12
(5kb)
NR Portugese NR J Clin Invest 81:909
No name In06-In12 Ins e7-12
(7kb)
NR Dutch NR Atheroscler 83:127
No name In07-In12 Ins e8-12
(4kb)
NR German NR Clin Invest 72:898
No name In07-In10 Ins e8-10
(2.6-6kb)
NR UK NR e-mail sub 1999; submitted
Palermo In12-In15 Del e13-15
(5kb)
3 Italian NR Med Genetik 9:355
No name Ex4 at 651 Del 37bp at 651 repeat 5
(37bp)

German NR Hum Genet 96:301
No name In10-In14 Del e11-14
(10kb)
NR, truncated protein Chinese NR ATVB 14:85
Petersburg In03-In6 Del e4-6
(5kb)
NR Russian NR Hum Mutat 2:256
Amsterdam-3 In09-In12 Ins e10-12
(5kb)
NR Turkish NR FH Workshop 97
No name 5'FR-In6 Del prom, e1-6
(10.5kb)
NR UK NR Arterioscler Thromb 12:762; JLR 37:368
No name In01-In6 Del e2-6
(10kb)
NR UK NR Arterioscler Thromb 12:762; JLR 37:368
No name In03-In6 Del 4-6
(5kb)
NR Dutch NR FH Workshop 97
No name In06-In07 Del e7
(1kb)
NR Polish NR Hum Genet 102:562

Breakpoint Notes

Tonami-2/Osaka-3

see paper for diagram

St Louis

Alu element of intron 1 in intron 8 sequence. Crossover somewhere between -123 and -168

Massa

del C42-18aa-term/C42-Y-L549/C42-term

Caltanissetta

Single aa change at junction, V for L

Paris-1

5': In4+845/3': In5+530bp

No name

D333 to G333 & term codon 3aa downstream

Salerno

ex14 last nucleotide G joined the 1st two nucleotides GC of the duplicated ex9 which make a glycine codon

Genoa-1

del G508-48aa-term

Italy-1 (Chieti/Macerata)

15Fs after Glu594 (see paper)

Bologna-2

Dup Q749-28aa-term

Potenza-1

del E594-15aa-term/E594-133aa-term/delD548-Q749

Padova-2

del A750-I775

Viterbo

del S828-16aa-term/S828-133aa-term

Helsinki

del E479-55aa-term. Acceptor splice site in ex18 del. mRNA contains part of int15 where there is a termination codon. Protein is 804aa, 749aa of normal NH2 terminus and 55 non-LDLR sequence. Between nucleotides 245 and 246. In15-245bp to ex18+843bp."

Osaka-1

del E749-55aa-term. 165 nucleotides into int15 before a termination codon. 55 novel amino acids added. In15-114 and ex18-118, between nucleotides -117 and -115.

Rochester

DelE749-55aa-term. Breakpoint is at -116 in the left arm of an Alu in int15 and joined to -7 in right arm of Alu sequenc in ex 18. A single T is added in.

Portugal

Possible insertion

No name

D333 to G333 & term codon 3aa downstream

No name

D333 to G333 & term codon 3aa downstream

Palermo

del E594-15aa-term/E594-133aa-term