exon | type of mutation | Nt No. | Nt mutations | AA No | AA effect | WB | antibody | clinical score | Nationality | author | year |
---|---|---|---|---|---|---|---|---|---|---|---|
3 | Deletion | 326 | G del | 98 | fs/Ter | Neg | W-485, W-224 | 3 | USA | Kwan/HMG | 1995 |
3 | Deletion | 384 | T del | 117 | fs/Ter | ND | ND | China | Chan/2002 | 2002 | |
3 | Deletion | 308-768 | 461bp del | 93 | fs/105X | Neg | Ab503 | 5A | Japan | Itoh | 2000 |
3 | Deletion | 312/313 | GT del | 126 | fs/Ter | ND | 4 | USA | Zhu2 | 1997 | |
3 | Insertion | 364 | C ins | 111 | fs/121X | ND | 3 | Italy | Giliani | 1999 | |
3 | Insertion | 364 | C ins | 111 | fs/Ter121 | Neg | 11G8B7 | 4 | Italy | Allavena | 2001 |
3 | Missense | 325 | G-C | 97 | Trp-Cys | ND | 2I | USA | Kolluri | 1995 | |
3 | Missense | 325 | G-C | 97 | Trp-Cys | ND | 4 | USA | Kwan/HMG | 1995 | |
3 | Missense | 325 | G-C | 97 | Try-Cys | ND | 2I | Germany | Schindelhauer | 1996 | |
3 | Missense | 330 | A-G | 99 | Gln-Arg | ND | 1 | Canada | Greer | 1996 | |
3 | Missense | 348 | T-C | 105 | Leu-Pro | Neg | H-250 | WAS | Italy | Dupre | 2002 |
3 | Missense | 354 | A-G | 107 | Tyr-Cys | pos | Ab503 | 2 | USA | Zhu2 | 1997 |
3 | Missense | 354 | A-G | 107 | Tyr-Cys | pos | 3F3-A5 | 2>3>5M | Japan | Ariga/JI | 2001 |
3 | Missense | 365 | A-C | 111 | Thr-Pro | ND | WAS | UK | Thompson | 1999 | |
3 | Missense | 377 | C-T | 115 | His-Tyr | ND | WAS | UK | Thompson | 1999 | |
3 | Missense | 390 | G-A | 119 | Gly-Glu | ND | 1 | Canada | Greer | 1996 | |
3 | Nonsense | 329 | C-T | 99 | Gln-STOP | Neg | Ab503 | WAS | USA | Kwan/PNAS | 1995 |
3 | Nonsense | 329 | C-T skipping of exon 3(87bp) |
99 | Gln-STOP | Neg | Ab503 | 5 | USA | Zhu | 1995 |
3 | Nonsense | 332 | G-R | 100 | Glu-STOP | ND | 3 | USA | Derry/HMG | 1995 | |
3 | Nonsense | 332 | G-T | 100 | Glu-STOP | ND | 4 | USA | Kwan/HMG | 1995 | |
3 | Nonsense | 344 | C-T | 104 | Glu-STOP | ND | WAS | Netherlands | Brooimans | 2000 | |
3 | Nonsense | 344 | C-T | 104 | Glu-STOP | ND | WAS | Netherlands | Brooimans | 2000 | |
3 | splicing defect | -2,int 3 | a-c | 120 | splicing defect | ND | WAS | Canada | Greer | 1996 | |
3 | splicing defect | -1,int 3 | g-a | fs/Ter | Neg | Ab503 | 3 | USA | Zhu2 | 1997 | |
3 | splicing defect | -1,int3 | g-a | 121 | fs/201X, fs/251X | Neg 0 |
Ab503 | 5M | Japan | Imai | 2004 |
3 | splicing defect | +1,int3 | g-c | exon3 skipping | ND | 4 | Germany | Schindelhauer | 1996 | ||
3 | splicing defect | +1,int3 | g-a | exon3 skipping | Neg | W-485 | 4 | USA | Remold-O'Donnel | 1997 | |
3 | splicing defect | +1,int3 | g-a | 92-120 | 29 aa del | Pos 1 |
Ab503 | 3 | Japan | Imai | 2004 |
3 | splicing defect | +2,int3 | t ins | exon3 skipping | Neg | W-485 | 5 | USA | Remold-O'Donnel | 1997 | |
3 | splicing defect | +2,int3 | t ins | exon3 skipping | Neg | W-485 | WAS | USA | Shcherbina | 1999 | |
3 | splicing defect | 393 | 7bp del | splicing defect | ND | WAS | Argentina | El-Hakeh | 2002 | ||
3 | splicing defect | 394 | G-T | fs/X | Neg | JD1 | 4 | UK | Qasim | 2001 | |
3 | splicing defect | +1-8,int4, -3,int3 | del 8bp, G ins | fs/Stop | ND | Ab503 | 1 | Japan | Imai | 2004 |