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-A73 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