exon | type of mutation | Nt No. | Nt mutations | AA No | AA effect | WB | antibody | clinical score | Nationality | author | year |
---|---|---|---|---|---|---|---|---|---|---|---|
11 | Deletion | 1482 | C del | 483 | fs/extend polyA | Neg | JD1 | WAS | UK | MacCarthy-Morrogh | 1999 |
11 | Deletion | 1373-1540 | 267bp del | del ex11,12 | ND | WAS | UK | Thompson | 1999 | ||
11 | Insertion | 1467 | G ins | 478 | fs/Ter | ND | 3 | USA | Derry/HMG | 1995 | |
11 | Insertion | 1467 | G ins | 478 | fs/Ter | ND | 5 | Spain | Fillat/2001 | 2001 | |
11 | Missense | 1409 | C-A | 459 | Pro-Ser | ND | 3 | Japan | Ariga/JI | 2001 | |
11 | Missense | 1460 | A-G | 476 | Lys-Glu | ND | 4 | USA | Kolluri | 1995 | |
11 | Missense | 1464 | G-A | 477 | Arg-Lys | ND | 1 | USA | Derry/HMG | 1995 | |
11 | Missense | 1464 | G-A | 477 | Arg-Lys | ND | 1 | Spain | Fillat/2001 | 2001 | |
11 | Missense | 1476 | T-A | 481 | Ile-Arg | pos | 3F3-A5 | IXLT | Italy | Notarangelo/2002 | 2002 |
11 | Missense | 1487 | G-A | 485 | Asp-Asn, skip ex11 | ND | 4 | USA | Lemahieu | 1999 | |
11 | Missense | 1487 | G-A | 485 | Asp-Asn, skip ex11 | Neg | 5A5 | 1 | Japan | Kanegane | 2000 |
11 | Missense | 1487 | G-A | 485 | Asp-Asn | ND | 3 | Spain | Fillat/2001 | 2001 | |
11 | Nonsense | 1388 | G-T | 452 | Glu-STOP | ND | ND | China | Chan/2002 | 2002 | |
11 | splicing defect | ND | ins118bp | fs/X | Pos 1 |
Ab503 | 2(5A) | Japan | Imai | 2004 | |
11 | splicing defect | ND | ins118bp | fs/X | Pos 1 |
Ab503 | 2(5A) | Japan | Imai | 2004 | |
11 | splicing defect | ND | ins118bp | fs/X | Pos 1 |
Ab503 | 3 | Japan | Imai | 2004 | |
11 | splicing defect | +?,int11 | g del | splicing defect | ND | 3 | Japan | Ariga/JI | 2001 | ||
11 | splicing defect | +2,int11 | t-c skipping exon 11(115bp) |
fs/Ter | ND | 4* | USA | Zhu | 1995 |