exon type of mutation Nt No. Nt mutations AA No AA effect WB antibody clinical score Nationality author year
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
11 Insertion 1467 G ins 478 fs/Ter ND
3 USA Derry/HMG 1995
11 Insertion 1467 G ins 478 fs/Ter ND
5 Spain Fillat/2001 2001
11 Missense 1409 C-A 459 Pro-Ser ND
3 Japan Ariga/JI 2001
11 Missense 1460 A-G 476 Lys-Glu ND
4 USA Kolluri 1995
11 Missense 1464 G-A 477 Arg-Lys ND
1 USA Derry/HMG 1995
11 Missense 1464 G-A 477 Arg-Lys ND
1 Spain Fillat/2001 2001
11 Missense 1476 T-A 481 Ile-Arg pos 3F3-A5 IXLT Italy Notarangelo/2002 2002
11 Missense 1487 G-A 485 Asp-Asn, skip ex11 ND
4 USA Lemahieu 1999
11 Missense 1487 G-A 485 Asp-Asn, skip ex11 Neg 5A5 1 Japan Kanegane 2000
11 Missense 1487 G-A 485 Asp-Asn ND
3 Spain Fillat/2001 2001
11 Nonsense 1388 G-T 452 Glu-STOP ND ND
China Chan/2002 2002
11 splicing defect ND ins118bp
fs/X Pos
1
Ab503 2(5A) Japan Imai 2004
11 splicing defect ND ins118bp
fs/X Pos
1
Ab503 2(5A) Japan Imai 2004
11 splicing defect ND ins118bp
fs/X Pos
1
Ab503 3 Japan Imai 2004
11 splicing defect +?,int11 g del
splicing defect ND
3 Japan Ariga/JI 2001
11 splicing defect +2,int11 t-c
skipping exon 11(115bp)

fs/Ter ND
4* USA Zhu 1995