exon type of mutation Nt No. Nt mutations AA No AA effect WB antibody clinical score Nationality author year
UT Deletion ND ND

Neg 11G8B7 4 Italy Facchetti 1998
1 Deletion total del


Neg
0		 Ab503 3 Japan Imai 2004
1 Deletion 45 G del 4 fs/44X Neg 5A5 WAS Japan Sasahara 2000
1 Deletion 45 G del 4 fs/44X Neg 5A5 WAS Japan Sasahara 2000
1 Deletion 65 G del 12 fs/X ND
3 Japan Ariga/97PedRes 1997
1 Deletion 116 C del 27 fs/Ter Neg 3F3-A5 4 Italy Wengler 1995
1 Deletion 122 CAC del 30 His deletion ND
2I USA Kolluri 1995
1 Deletion 122 CAC del 30 His deletion ND
XLT Argentine El-Hakeh 2002
1 Deletion 138 T del 34 fs/Ter ND
3 USA Kolluri 1995
1 Deletion 141 TT del 26 Phe-STOP ND
4 Italy Wengler 1995
1 Deletion 141 TT del 26 Phe-STOP pos Ab503 4 USA Zhu2 1997
1 Deletion 1-768 768bp del 1 fs/Ter Neg JD1 WAS UK MacCarthy-Morrogh 1999
1 Deletion 41-45 G del 4 fs/44X Neg Ab503 4 Japan Itoh 2000
1 Deletion 107,108 2bp deletion 36 fs/Ter ND
4 Italy Wengler/Lancet 1995
1 Deletion 140,141 del TT 36 Phe-STOP Neg
0		 Ab503 2<1 Japan Imai 2004
1 Deletion 156,161 del G(156), T(161) 41 fs/Ter ND
3 Germany Schindelhauer 1996
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
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
4 Deletion 406 G del 125 fs/126X Neg
0		 Ab503 4 Japan Imai 2004
4 Deletion 424 C del 130 fs/Ter ND
4 USA Kwan/HMG 1995
4 Deletion 425 G del 130 fs/Ter ND
4 USA Kolluri 1995
4 Deletion 425 G del 130 fs/Ter ND
4 Denmark Schwartz 1996
4 Deletion 484,485 2bp del 167 fs/Ter Neg H-250 WAS Italy Dupre 2002
5 Deletion 516 C del 161 fs/X Neg JD1 3 UK Qasim 2001
5 Deletion 516 C del 161 fs/X ND
WAS Argentina El-Hakeh 2002
6 Deletion 553 G del 172 fs/Ter ND
WAS Netherlands Brooimans 2000
6 Deletion 570 T del 176 fs/Ter ND
4 Italy Wengler 1995
6 Deletion 540-593 54bp del 169 18aa del Neg 5A5 3 Japan Kawai 2002
7 Deletion 605 GG del 191 fs/Ter ND
4 USA Kwan/HMG 1995
7 Deletion 705 64bp del 224 fs/Ter Neg Ab503 4 USA Ochs(unpublished) 1997
7 Deletion 763 A del 244 fs/Ter ND
WAS USA Shcherbina 1999
7 Deletion 763 A del 244 fs/Ter ND
WAS USA Orange 2002
7 Deletion 594-768 274bp del 188 fs/202X Neg
0		 Ab503 5A/M Japan Imai 2004
7 Deletion 594-1487 del ex 7-11 187-485 fs/Ter ND
WAS Argentina El-Hakeh 2002
8 Deletion 768 19bp del 245 fs/Ter ND
WAS Netherlands Brooimans 2000
8 Deletion 789 G del 253 fs/260X ND
2 USA Lemahieu 1999
9 Deletion 899 C del 290 fs/307X Neg Ab503 3 Japan Itoh 2000
9 Deletion 906 ACG-CA 291 fs/307X ND
5 USA Lemahieu 1999
9 Deletion 907 C del 291 fs/291X pos 11G8B7 2 Italy Facchetti 1998
9 Deletion 908 4bp del 292 fs/Ter ND
WAS Japan Ariga/99BJH 1999
9 Deletion 911 T del 292 fs/Ter ND
WAS Netherlands Brooimans 2000
9 Deletion 922 C del 296 fs/Ter ND
3 Japan Ariga/JI 2001
9 Deletion 925 G del 297 fs/Ter307 ND
WAS Argentina El-Hakeh 2002
9 Deletion 953 12bp del
A953G(ATGŮgtg)new spice site		 307 del 4 aa ND
2 USA Zhu 1995
10 Deletion 984 C del 318 fs/Ter ND ND
China Chan/2002 2002
10 Deletion 1019 C del 328 fs/444X ND
2 Spain Fillat/2001 2001
10 Deletion 1019 C del 328 fs/444X ND
5 Spain Fillat/2001 2001
10 Deletion 1019 C del 328 fs/444X ND
4 Spain Fillat/2001 2001
10 Deletion 1019 C del 328 fs/444X ND
4 Spain Fillat/2001 2001
10 Deletion 1030 6bp del 332 fs/Ter ND
WAS USA Ochs(unpublished) 1997
10 Deletion 1030 G del 333 fs/Ter Neg Ab503 4 USA Zhu2 1997
10 Deletion 1030 G del 333 fs/444X pos 11G8B7 3 Italy Facchetti 1998
10 Deletion 1035 G del 333 fs/Ter ND
WAS Canada Greer 1996
10 Deletion 1035 G del 333 fs/Ter ND
WAS Canada Greer 1996
10 Deletion 1086 C del 351fs/Ter Neg W-485, W-224 1 USA Kwan/HMG 1995
10 Deletion 1086 C del 351 fs/Ter ND
4 Italy Wengler 1995
10 Deletion 1086 C del 351 fs/Ter ND
5 Japan Ariga/97PedRes 1997
10 Deletion 1109 C-A, C del 359 fs/Ter ND
2E USA Derry/HMG 1995
10 Deletion 1109 C del 444 fs/Ter Neg Ab503 5 USA Zhu2 1997
10 Deletion 1119 C del 444 fs/444X ND
4 USA Kwan/HMG 1995
10 Deletion 1119 C del 444 fs/444X Neg 5A5 WAS Japan Sasahara 2000
10 Deletion 1178 C del
fs/X Neg
0		 Ab503 3 Japan Imai 2004
10 Deletion 1184 C del 384 fs/444X Neg 11G8B7 4 Italy Facchetti 1998
10 Deletion 1234 10bp del 399 fs/Ter ND
WAS Canada Greer 1996
10 Deletion 1295 11bp del 421 fs/Ter ND
WAS HongKong Chan 1999
10 Deletion 1301 5bp del 423 fs/Ter Neg Ab503 5 USA Zhu 1995
10 Deletion 1303 18bp del 423 del AWPGGG ND
4 Denmark Schwartz 1996
10 Deletion 1305 G del 424 fs/Ter pos W-485, W-224 3A USA Kwan/PNAS 1995
10 Deletion 1305 G del 424 fs/Ter pos W-485 WAS USA Shcherbina 1999
10 Deletion 1305 G del 424 fs/Ter pos B4 2I USA Falet 2002
10 Deletion 1319 G del 430 fs/444X ND
5 USA Lemahieu 1999
10 Deletion 1380 8bp del 449 fs/Ter ND
WAS Argentina El-Hakeh 2002
10 Deletion 1030-1035 G del 333 fs/Ter ND
WAS Argentina El-Hakeh 2002
10 Deletion 1047,1048 GT del 337 fs/Ter ND
WAS Canada Greer 1996
10 Deletion 1088-1092 C del 351 fs/Ter444 ND
mild WAS Argentina El-Hakeh 2002
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
12 Deletion 1519 T del
fs/extend polyA ND
WAS Italy Shcherbina 1999
12 Deletion 1543 AGTG del
extend polyA ND
4 USA Kolluri 1995
1-6 Deletion -int 6 15.8kb del

Neg W-485 WAS USA Lutskiy/HumGen 2002
10 Deletion,Missense 1110,1109 C del/C-A 444/359 fs/Ter/Pro-Thr Neg Ab503 4 USA Zhu2 1997
10 Insertion,Deletion 1099,1127 A ins, G del 356-365 PRGPPPPGRG-TPGTPTPRPR ND
WAS Japan Ariga/98Blood 1998