exon	type of mutation	Nt No.	Nt mutations	AA No	AA effect	WB	antibody	clinical score	Nationality	author	year
1	Missense	52	G-A	6	Met-Ile	pos	Ab503	1	Japan	Itoh	2000
1	Missense	52	G-A	6	Met-Ile	pos	Ab503	1	Japan	Itoh	2000
1	Missense	105	C-T	24	Ser-Phe	Pos 1	Ab503	5A	Japan	Imai	2004
1	Missense	113	C-T	27	Leu-Phe	pos	Ab503	1	USA	Derry/HMG	1995
1	Missense	125	G-A	31	Glu-Lys	ND		4	USA	Kolluri	1995
1	Missense	125	G-A	31	Glu-Lys	ND		3	Germany	Schindelhauer	1996
1	Missense	125	G-A	31	Glu-Lys	ND		3	Japan	Ariga/97PedRes	1997
1	Missense	125	G-A	31	Glu-Lys	Neg	3F3-A5	WAS	Japan	Ariga/99BJH	1999
1	Missense	125	G-A	31	Glu-Lys	Neg	11G8B7	3	Italy	Allavena	2001
1	Missense	125	G-A	31	Glu-Lys	Neg	JD1	2	UK	Qasim	2001
1	Missense	126	A-G	31	Glu-Gly	Neg	JD1	4	UK	Qasim	2001
1	Missense	127	G-C	31	Glu-Asp	ND		WAS	Canada	Greer	1996
1	Missense	150	C-T	39	Leu-Pro	ND		4	USA	Kwan/HMG	1995
1	Missense	150	C-T	39	Leu-Pro	pos	Ab503	2	USA	Zhu2	1997
1	Missense	150	C-T	39	Leu-Pro	pos	Ab503	2	USA	Zhu2	1997
1	Missense	150	T-C	39	Leu-Pro	pos	11G8B7	2	Italy	Allavena	2001
1	Missense	153	G-T	40	Gly-Val	ND		4	Israeli	Rottem	2000
1	Missense	155	C-G	41	Arg-Gly	pos	3F3-A5	2E	USA	Stewart	1996
1	Missense	163	C-G	43	Cys-Trp	pos	W-485, W-224	3	USA	Kwan/PNAS	1995
1	Missense	138/139	T-A/C-T	35	Leu-His	pos	Ab503	5	USA	Zhu2	1997
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
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
4	Missense	405	C-A	124	Ala-Glu	ND		3	Chile	Fillat/2000	2000
4	Missense	407	G-A	125	Gly-Arg	Neg	Ab503	5	USA	Zhu	1995
4	Missense	407	G-C	125	Gly-Arg	ND		WAS	Canada	Greer	1996
4	Missense	415	C-G	128	Asn-Lys	Neg	5A5	3	Japan	Kawai	2002
4	Missense	416	T-C	128	Phe-Leu	ND		WAS	Canada	Greer	1996
4	Missense	417	T-C	128	Phe-Ser	ND		WAS	Canada	Greer	1996
4	Missense	417	T-C	128	Phe-Ser	ND		4	USA	Zhu2	1997
4	Missense	425	G-A	131	Glu-Lys	ND		1	Denmark	Schwartz	1996
4	Missense	431	G-A	133	Glu-Lys	ND		4	USA	Kolluri	1995
4	Missense	431	G-A	133	Glu-Lys	ND		WAS	USA	Kwan/PNAS	1995
4	Missense	431	G-A	133	Glu-Lys	ND		WAS	USA	Kwan/PNAS	1995
4	Missense	431	G-A	133	Glu-Lys	ND		WAS	Canada	Greer	1996
4	Missense	431	G-A	133	Glu-Lys	ND		5	USA	Lemahieu	1999
4	Missense	431	G-A	133	Glu-Lys	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
4	Missense	431	G-A	133	Glu-Lys	ND		mild WAS	UK	Thompson	1999
4	Missense	431	G-A	133	Glu-Lys	ND		5	Italy	Allavena	2001
4	Missense	431	G-A	133	Glu-Lys	ND		4	Spain	Fillat/2001	2001
4	Missense	431	G-A	133	Glu-Lys	ND		4	Spain	Fillat/2001	2001
4	Missense	431	G-A	133	Glu-Lys	Neg	JD1	4	UK	Qasim	2001
4	Missense	431	G-A	133	Glu-Lys	ND		WAS	Argentina	El-Hakeh	2002
4	Missense	431	G-A	133	Glu-Lys	ND		WAS	USA	Orange	2002
4	Missense	434	G-A	134	Ala-Thr	ND		WAS	USA	Kwan/PNAS	1995
4	Missense	435	C-T	134	Ala-Val	pos	Ab503	4	USA	Zhu2	1997
4	Missense	447	G-C	138	Arg-Pro	ND		WAS	UK	Thompson	1999
4	Missense	447	G-C	138	Arg-Pro	pos	H-250	1	USA	Luthi	2002
4	Missense	447	G-C	138	Arg-Pro	pos	H-250	1	USA	Luthi	2002
4	Missense	425/290	G-A/C-T	131/86	Glu-Lys/Arg-Cys	pos	Ab503	5	USA	Derry/HMG	1995
4	Missense	425/290	G-A/C-T	131/86	Glu-Lys/Arg-Cys	pos	Ab503	4	USA	Derry/HMG	1995
4	Missense	425/431	G-A/G-A	131/133	Glu-Lys/Glu-Lys	Neg	Ab503	3	USA	Zhu2	1997
6	Missense	593	G-T	187	Gly-Cys	ND		2E	USA	Derry/HMG	1995
6	Missense	593	G-T	187	Gly-Cys	ND		2EA	USA	Derry/HMG	1995
7	Missense	741	G-C	236	Ala-Glu	ND		1	Italy	Villa	1995
7	Missense	741	C-G	236	Ala-Gly	ND		1	Italy	Wengler	1995
7	Missense	741	C-G	236	Ala-Gly	pos	11G8B7	1	Italy	Allavena	2001
9	Missense	843	T-C	270	Leu-Pro	pos	3F3-A5	XLN	Belgium	Devriendt	2001
9	Missense	915	T-C	294	Ile-Thr	ND		XLN+MDS	UK(Zaire)	Ancliff	2001
9	Missense	953	A-G	307	Met-Val	pos	Ab503	2	USA	Kwan/HMG	1995
10	Missense	1050,1151	C-A/C-T	339/373	Ser-Tyr/Pro-Ser	ND		WAS	USA	Ochs(unpublished)	1997
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