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