exon | type of mutation | Nt No. | Nt mutations | AA No | AA effect | WB | antibody | clinical score | Nationality | author | year |
---|---|---|---|---|---|---|---|---|---|---|---|
2 | Deletion | 206 | C del | 75 | fs/Ter | ND | 5 | USA | Zhu2 | 1997 | |
2 | Deletion | 211 | T del | 59 | fs/75X | Neg | Ab503 | 5 | USA | Derry/Cell | 1994 |
2 | Deletion | 211 | T del | 59 | fs/75X | Neg | Ab503 | 5 | USA | Derry/Cell | 1994 |
2 | Deletion | 211 | T del | 59 | fs/Ter | ND | 3 | Germany | Schindelhauer | 1996 | |
2 | Deletion | 248 | G del | 72 | fs/Ter | ND | WAS | USA | Kwan/PNAS | 1995 | |
2 | Deletion | 260 | A del | 76 | fs/126X | Neg 0 |
Ab503 | 5A/M | Japan | Imai | 2004 |
2 | Deletion | 268 | C del | 77 | fs/Ter | ND | 1 | USA | Kolluri | 1995 | |
2 | Deletion | 283 | CTTCA del | 84 | fs/119X | Neg 0 |
Ab503 | 4 | Japan | Imai | 2004 |
2 | Insertion | 218 | G ins | 62 | fs/78X | ND | WAS | UK | Thompson | 1999 | |
2 | Missense | 168 | C-T | 45 | Thr-Met | pos | W-485, W-224 | mild WAS | USA | Kwan/PNAS | 1995 |
2 | Missense | 168 | C-T | 45 | Thr-Met | ND | 1 | France | de Saint Basile | 1996 | |
2 | Missense | 168 | C-T | 45 | Thr-Met | ND | 1 | Canada | Greer | 1996 | |
2 | Missense | 168 | C-T | 45 | Thr-Met | ND | 2E | Denmark | Schwartz | 1996 | |
2 | Missense | 168 | C-T | 45 | Thr-Met | ND | 2E | Japan | Ariga/97PedRes | 1997 | |
2 | Missense | 168 | C-T | 45 | Thr-Met | pos | Ab503 | 2 | USA | Zhu2 | 1997 |
2 | Missense | 168 | C-T | 45 | Thr-Met | pos | Ab503 | 2 | USA | Zhu2 | 1997 |
2 | Missense | 168 | C-T | 45 | Thr-Met | pos | W-485 | mild WAS | USA | Shcherbina | 1999 |
2 | Missense | 168 | C-T | 45 | Thr-Met | pos | W-485 | mild WAS | USA | Shcherbina | 1999 |
2 | Missense | 168 | C-T | 45 | Thr-Met | ND | mild WAS | UK | Thompson | 1999 | |
2 | Missense | 168 | C-T | 45 | Thr-Met | ND | mild WAS | UK | Thompson | 1999 | |
2 | Missense | 168 | C-T | 45 | Thr-Met | ND | XLT | UK | Thompson | 1999 | |
2 | Missense | 168 | C-T | 45 | Thr-Met | ND | XLT | UK | Thompson | 1999 | |
2 | Missense | 168 | C-T | 45 | Thr-Met | pos | Ab503 | 2 | Japan | Itoh | 2000 |
2 | Missense | 168 | C-T | 45 | Thr-Met | ND | XLT | Syria | Ho | 2001 | |
2 | Missense | 168 | C-T | 45 | Thr-Met | Pos 1 |
Ab503 | 2 | Japan | Imai | 2004 |
2 | Missense | 168 | C-T | 45 | Thr-Met | Pos 1 |
Ab503 | 1 | Japan | Imai | 2004 |
2 | Missense | 168 | C-T | 45 | Thr-Met | Pos 1 |
Ab503 | 5A | Japan | Imai | 2004 |
2 | Missense | 171 | T-C | 46 | Leu-Pro | ND | 2I | Germany | Schindelhauer | 1996 | |
2 | Missense | 174 | C-A | 47 | Ala-Asp | pos | Ab503 | 2 | USA | Zhu | 1995 |
2 | Missense | 177 | C-T | 48 | Thr-Ile | pos | Ab503 | 2 | USA | Derry/HMG | 1995 |
2 | Missense | 190 | G-C | 52 | Gln-His | ND | XLT | Argentina | El-Hakeh | 2002 | |
2 | Missense | 201 | C-T | 56 | Ala-Val | ND | 1 | Italy | Villa | 1995 | |
2 | Missense | 201 | C-G | 56 | Ala-Val | ND | 1 | Italy | Wengler | 1995 | |
2 | Missense | 201 | C-T | 56 | Ala-Val | ND | 1 | Canada | Greer | 1996 | |
2 | Missense | 201 | C-T | 56 | Ala-Val | ND | 2E | Denmark | Schwartz | 1996 | |
2 | Missense | 201 | C-T | 56 | Ala-Val | pos | Ab503 | 2 | USA | Zhu2 | 1997 |
2 | Missense | 201 | C-T | 56 | Ala-Val | pos | 11G8B7 | 1 | Italy | Allavena | 2001 |
2 | Missense | 201 | C-T | 56 | Ala-Val | Pos 2 |
Ab503 | 1 | Japan | Imai | 2004 |
2 | Missense | 207 | C-T | 58 | Pro-Leu | ND | WAS | USA | Kwan/PNAS | 1995 | |
2 | Missense | 207 | C-G | 58 | Pro-Arg | pos | 3F3-A5 | IXLT | Italy | Notarangelo/2002 | 2002 |
2 | Missense | 224 | T-C | 64 | Trp-Arg | ND | 3 | Chile | Fillat/2000 | 2000 | |
2 | Missense | 242 | G-T | 70 | Gly-Try | ND | WAS | Argentina | El-Hakeh | 2002 | |
2 | Missense | 251 | T-C | 73 | Cys-Arg | Neg | (143) | 4 | USA | Lemahieu | 1999 |
2 | Missense | 252 | G-A | 73 | Cys-Tyr | Neg | 5A5 | WAS | USA | Orange | 2002 |
2 | Missense | 252 | G-A | 73 | Cys-Tyr | Neg | 5A5 | WAS | USA | Orange | 2002 |
2 | Missense | 257 | G-A | 75 | Val-Met | pos | Ab503 | 2 | USA | Derry/HMG | 1995 |
2 | Missense | 257 | G-A | 75 | Val-Met | ND | 1 | USA | Derry/HMG | 1995 | |
2 | Missense | 257 | G-A | 75 | Val-Met | ND | 1 | USA | Kolluri | 1995 | |
2 | Missense | 257 | G-A | 75 | Val-Met | pos | W-485, W-224 | mild WAS | USA | Kwan/HMG | 1995 |
2 | Missense | 257 | G-A | 75 | Val-Met | ND | 1 | France | de Saint Basile | 1996 | |
2 | Missense | 257 | G-A | 75 | Val-Met | ND | 2 | USA | Lemahieu | 1999 | |
2 | Missense | 257 | G-A | 75 | Val-Met | Neg | JD1 | WAS | UK | MacCarthy-Morrogh | 1999 |
2 | Missense | 257 | G-A | 75 | Val-Met | Neg | JD1 | WAS | UK | MacCarthy-Morrogh | 1999 |
2 | Missense | 257 | G-A | 75 | Val-Met | pos | W-485 | mild WAS | USA | Shcherbina | 1999 |
2 | Missense | 257 | G-A | 75 | Val-Met | ND | WAS | UK | Thompson | 1999 | |
2 | Missense | 257 | G-A | 75 | Val-Met | ND | XLT | UK | Thompson | 1999 | |
2 | Missense | 257 | G-A | 75 | Val-Met | ND | 2 | Spain | Fillat/2001 | 2001 | |
2 | Missense | 257 | G-A | 75 | Val-Met | ND | 2 | Spain | Fillat/2001 | 2001 | |
2 | Missense | 257 | G-A | 75 | Val-Met | ND | 1 | Argentina | El-Hakeh | 2002 | |
2 | Missense | 257 | G-A | 75 | Val-Met | ND | Ab503 | 2 | Japan | Imai | 2004 |
2 | Missense | 257 | G-A | 75 | Val-Met | ND | Ab503 | 1 | Japan | Imai | 2004 |
2 | Missense | 264 | A-G | 77 | Gln-Gly | pos | 11G8B7 | 2 | Italy | Allavena | 2001 |
2 | Missense | 278 | T-C | 82 | Ser-Pro | ND | 3 | USA | Kolluri | 1995 | |
2 | Missense | 279 | C-T | 82 | Ser-Phe | ND | 4 | USA | Kwan/HMG | 1995 | |
2 | Missense | 282 | A-G | 83 | Tyr-Cys | pos | (143) | 1 | USA | Lemahieu | 1999 |
2 | Missense | 284 | T-C | 84 | Phe-Leu | Neg | JD1 | WAS | UK | MacCarthy-Morrogh | 1999 |
2 | Missense | 284 | T-C | 84 | Phe-Leu | Neg | JD1 | WAS | UK | MacCarthy-Morrogh | 1999 |
2 | Missense | 284 | T-C | 84 | Phe-Leu | ND | mild WAS | UK | Thompson | 1999 | |
2 | Missense | 284 | T-C | 84 | Phe-Leu | Neg | JD1 | 1 | UK | Qasim | 2001 |
2 | Missense | 288 | T-C | 85 | Ile-Thr | ND | 3 | Japan | Ariga/JI | 2001 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | 1 | USA | Kolluri | 1995 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | 4 | USA | Kolluri | 1995 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | 4 | USA | Kolluri | 1995 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | pos | W-485, W-224 | 1 | USA | Kwan/HMG | 1995 |
2 | Missense | 290 | C-T | 86 | Arg-Cys | pos | Ab503 | 1 | USA | Kwan/HMG | 1995 |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | 1 | USA | Kwan/HMG | 1995 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | 1 | USA | Zhu | 1995 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | pos | Ab503 | 2 | USA | Zhu | 1995 |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | 1 | Canada | Greer | 1996 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | 2E | Germany | Schindelhauer | 1996 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | 1 | Denmark | Schwartz | 1996 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | 3 | USA | Lemahieu | 1999 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | XLT | UK | Thompson | 1999 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | 3 | Turky | Duzova | 2001 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | 4 | Spain | Fillat/2001 | 2001 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | ND | XLT | Argentina | El-Hakeh | 2002 | |
2 | Missense | 290 | C-T | 86 | Arg-Cys | Pos 2 |
Ab503 | 1 | Japan | Imai | 2004 |
2 | Missense | 290 | C-T | 86 | Arg-Cys | Pos 1 |
Ab503 | 5A | Japan | Imai | 2004 |
2 | Missense | 290 | C-T | 86 | Arg-Cys | Pos 1 |
Ab503 | 2 | Japan | Imai | 2004 |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | 2I | USA | Derry/Cell | 1994 | |
2 | Missense | 291 | G-T | 86 | Arg-Leu | ND | 4 | USA | Derry/HMG | 1995 | |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | 3 | USA | Derry/HMG | 1995 | |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | 4 | USA | Kolluri | 1995 | |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | WAS | Canada | Greer | 1996 | |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | 2I | Canada | Greer | 1996 | |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | 3 | Germany | Schindelhauer | 1996 | |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | 3 | Germany | Schindelhauer | 1996 | |
2 | Missense | 291 | G-C | 86 | Arg-Pro | ND | 3 | Germany | Schindelhauer | 1996 | |
2 | Missense | 291 | G-A | 86 | Arg-His | pos | Ab503 | 2 | USA | Zhu2 | 1997 |
2 | Missense | 291 | G-A | 86 | Arg-His | pos | W-485 | mild WAS | USA | Shcherbina | 1999 |
2 | Missense | 291 | G-A | 86 | Arg-His | pos | W-485 | mild WAS | USA | Shcherbina | 1999 |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | WAS | UK | Thompson | 1999 | |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | mild WAS | UK | Thompson | 1999 | |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | mild WAS | UK | Thompson | 1999 | |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | 3 | Spain | Fillat/2001 | 2001 | |
2 | Missense | 291 | G-A | 86 | Arg-His | ND | 3 | Spain | Fillat/2001 | 2001 | |
2 | Missense | 291 | G-T | 86 | Arg-Leu | ND | 4 | Spain | Fillat/2001 | 2001 | |
2 | Missense | 291 | G-A | 86 | Arg-His | pos | B4 | 1 | USA | Falet | 2002 |
2 | Missense | 291 | G-A | 86 | Arg-His | Pos 1 |
Ab503 | 2 | Japan | Imai | 2004 |
2 | Missense | 291 | G-A | 86 | Arg-His | NA | Ab503 | 3 | Japan | Imai | 2004 |
2 | Missense | 300 | G-A | 89 | Gly-Asp | pos | JD1 | mild WAS | UK | MacCarthy-Morrogh | 1999 |
2 | Missense | 291, 1412 | G-A, C-T | 86, 460 | Arg-His, Pro-Ser | Pos 1 |
Ab503 | 5A(4y)<2(2y) | Japan | Imai | 2004 |
2 | Nonsense | 196 | C-A | 54 | Tyr-STOP | ND | WAS | Netherlands | Brooimans | 2000 | |
2 | Nonsense | 196 | C-A | 54 | Tyr-STOP | Neg | Ab503 | 3 | Japan | Itoh | 2000 |
2 | Nonsense | 196 | C-A | 54 | Tyr-STOP | Neg | 5A5 | WAS | Japan | Sasahara | 2000 |
2 | Nonsense | 272 | C-T | 80 | Gln-STOP | ND | 3 | USA | Kolluri | 1995 | |
2 | Nonsense | 298 | C-A | 88 | Tyr-Stop | Neg | W-485 | 5 | USA | Remold-O'Donnel | 1997 |
2 | splicing defect | -1,int2 | g-a | exon3 skipping | ND | 2I | Japan | Ariga/96BBA | 1996 | ||
2 | splicing defect | +2,int2 | t-c | splicing anomaly | ND | WAS | Argentina | El-Hakeh | 2002 |