Name | Site | Exons Affected | Class | Nationalities | Activity | References | |
---|---|---|---|---|---|---|---|
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 |