Missense point mutations

The following table provides an overview of currently known point mutations leading to amino acid substitutions.

Name/Case	Case	Mutation [1]	Exon	Base	Codon	Mutation [2]	Result	Source
NS [3]	HND	A>T	1	1	1	c.1A>T	Met>Leu	Alonso-Gonzalez et al., 2012
SZ	HND	T>C	1	2	1	c.2T>C	Met>Thr	Gathof et al., 1996
1151, JR	LND	G>A	1	3	1	c.3G>A	Met>Ile	Tarle et al., 1991
LN49, JT	LND	G>A	1	3	1	c.3G>A	Met>Ile	Jinnah et al., 2000
Gravesend	HRH	G>A	1	20	7	c.20G>A	Gly>Asp	Davidson et al., 1991
HB, LN154	HND	T>G	1	23	8	c.23T>G	Val>Gly	Sege-Peterson et al., 1992
NS	LND	T>G	2	29	10	c.29T>G	Ile>Ser	Yamada et al., 2008
LN8, GA	LND	T>A	2	29	10	c.29T>A	Ile>Asn	Jinnah et al., 2000
NS	LND	A>C	2	35	12	c.35A>C	Asp>Ala	Nguyen et al., 2011
Urangan, GL	HND	G>A	2	46	16	c.46G>A	Gly>Ser	Sculley et al., 1991
42-05	HRH	G>C	2	46	16	c.46G>C	Gly>Ala	Corrigan et al., 2011
FG	LND	G>A	2	47	16	c.47G>A	Gly>Asp	Sege-Peterson et al., 1992
44-07	LND	G>T	2	47	16	c.47G>T	Gly>Val	Corrigan et al., 2011
CF	LND	G>T	2	47	16	c.47G>T	Gly>Val	new
Family 5 (LN107, KH)	LND	A>G	2	50	17	c.50A>G	Tyr>Cys	O'Neill, 2004
Mashad	LNV	A>T	2	59	20	c.59A>T	Asp>Val	Davidson et al., 1991
NS	HRH	A>T	2	59	20	c.59A>T	Asp>Val	new
188-10	LND	T>G	2	65	22	c.65T>G	Phe>Cys	Corrigan et al., 2011
AC	LND	T>G	2	65	22	c.65T>G	Phe>Cys	new
NS	HRH	G>T	2	68	23	c.68G>T	Cys>Phe	Hikita et al., 1998
JS	HRH	C>G	2	69	23	c.69C>G	Cys>Trp	Sege-Peterson et al., 1992
Yonago	HRH	C>A	2	73	25	c.73C>A	Pro>Thr	Tohyama et al., 1994
15/00, Family 25	LND	C>G	2	74	25	c.74C>G	Pro>Arg	Bertelli et al., 2004; de Gemmis et al., 2010
NS	LND	C>G	2	74	25	c.74C>G	Pro>Arg	Yamada et al., 2011a
MD	HND	G>C	2	85	29	c.85G>C	Ala>Pro	new
Chia-yi, Case 42-32	HRH	T>G	2	93	31	c.93T>G	Asp>Glu	Jinnah et al., 2010; Wu et al., 2007
AS	LND	T>C	2	95	32	c.95T>C	Leu>Ser	Jinnah et al., 2000
LN72, CF	LND	G>C	2	96	32	c.96G>C	Leu>Phe	Jinnah et al., 2000
Family 15	HRH	C>T	2	112	38	c.112C>T	Pro>Ser	de Gemmis et al., 2010
LN24, JJ	LND	C>T	2	113	38	c.113C>T	Pro>Leu	Jinnah et al., 2000
AP	LND	C>G	2	115	39	c.115C>G	His>Asp	Jinnah et al., 2006
AP	HND	C>G	2	115	39	c.115C>G	His>Asp	new
AC	LND	G>A	2	118	40	c.118G>A	Gly>Arg	new
Huelva, LN-H	LND	G>A	2	118	40	c.118G>A	Gly>Arg	Puig et al., 2001; Torres et al., 2000
Detroit, KM	LND	T>C	2	122	41	c.122T>C	Leu>Pro	Davidson et al., 1989b
Isar, KM	LND	A>T	2	124	42	c.124A>T	Ile>Phe	Burgemeister et al., 1994
Heapy	NA	T>C	2	125	42	c.125T>C	Ile>Thr	Davidson et al., 1991
OA	LND	T>C	2	125	42	c.125T>C	Ile>Thr	new
Santona, Case 25-20	HND	T>C	2	125	42	c.125T>C	Ile>Thr	Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000
NS	LND	G>T	2	130	44	c.130G>T	Asp>Try	Yamada et al., 2011a
MG	LND	G>C	2	130	44	c.130G>C	Asp>His	new
NS	LND	A>T	2	131	44	c.131A>T	Asp>Val	Yamada et al., 2008
Family I	LND	A>G	2	131	44	c.131A>G	Asp>Gly	Jurecka et al., 2008
NS	LND	A>G	2	131	44	c.131A>G	Asp>Gly	Jinnah et al., 2006
NS	LND	A>G	2	133	45	c.133A>G	Arg>Gly	Nguyen et al., 2011
NS	LNV	G>A	2	134	45	c.134G>A	Arg>Lys	Willers et al., 1999
RJK 2163, TD	LND	G>A	2	134	45	c.134G>A	Arg>Lys	Gibbs et al., 1990
GLA 7292	LND	G>A	2	134	45	c.134G>A	Arg>Lys	Boyd et al., 1993
LN59, CC	LND	G>A	2	134	45	c.134G>A	Arg>Lys	Jinnah et al., 2000
LN40-3, CC	LND	A>T	3	140	47	c.140A>T	Glu>Val	Jinnah et al., 2000; Jinnah et al., 2006
LN11C, MC, MC	LND	A>G	3	140	47	c.140A>G	Glu>Gly	Jinnah et al., 2000; Jinnah et al., 2006
71-05	HRH	C>T	3	142	48	c.142C>T	Arg>Cys	Corrigan et al., 2011
AG	HRH	G>A	3	143	48	c.143G>A	Arg>His	Sege-Peterson et al., 1992
DD, Case 30-24	HND	G>A	3	143	48	c.143G>A	Arg>His	Jinnah et al., 2010; Sege-Peterson et al., 1992
DoA, Case 6-6	HND	G>A	3	143	48	c.143G>A	Arg>His	Jinnah et al., 2010
GH (case 23-14) and TH (case 18-14); LN207	HND	G>A	3	143	48	c.143G>A	Arg>His	Jinnah et al., 2010
JB (case 36-16); LN134, VC (case 20-16); CZ (case 43-16);	HND	G>A	3	143	48	c.143G>A	Arg>His	Jinnah et al., 2010; Larovere et al., 2007
Madrid II, Case 28-23	HND	G>A	3	143	48	c.143G>A	Arg>His	Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000
Patient 21, Family 17	HND	G>A	3	143	48	c.143G>A	Arg>His	de Gemmis et al., 2010
VD	HRH	G>A	3	143	48	c.143G>A	Arg>His	Jinnah et al., 2010
LA	HND	G>A	3	143	48	c.143G>A	Arg>His	Jinnah et al., 2010
LN214, PG	LNV	G>A	3	143	48	c.143G>A	Arg>His	Sapag et al.
LA	HND	G>A	3	143	48	c.143G>A	Arg>His	new
AD	HND	G>A	3	143	48	c.143G>A	Arg>His	new
Family 16	LND	C>T	3	145	49	c.145C>T	Leu>Phe	de Gemmis et al., 2010
LN159, DP	LND	C>T	3	145	49	c.145C>T	Leu>Phe	new
MB	LND	T>G	3	146	49	c.146T>G	Leu>Arg	new
CM;SM	LND	G>A	3	148	50	c.148G>A	Ala>Thr	new
LW, Case 34-28	HND	G>C	3	148	50	c.148G>C	Ala>Pro	Jinnah et al., 2010; Sege-Peterson et al., 1992
1265, RS	LND	C>T	3	149	50	c.149C>T	Ala>Val	Tarle et al., 1991
49-08	LND	C>A	3	149	50	c.149C>A	Ala>Asp	Corrigan et al., 2011
Toronto, LP	HRH	C>G	3	151	51	c.151C>G	Arg>Gly	Wilson et al., 1986; Wilson et al., 1983
Tsou	HRH	G>A	3	152	51	c.152G>A	Arg>Gln	Chang et al., 1999; Jinnah et al., 2010
Banbury	NA	G>C	3	152	51	c.152G>C	Arg>Pro	Boyd et al., 1993; Davidson et al., 1991
TE	HRH	G>A	3	157	53	c.157G>A	Val>Met	Sege-Peterson et al., 1992
MG	HRH	T>C	3	158	53	c.158T>C	Val>Ala	Sege-Peterson et al., 1992
ML;AL	LND	T>G	3	158	53	c.158T>G	Val>Gly	new
Japan1	LND	A>C	3	160	54	c.160A>C	Met>Leu	Igarishi et al., 1989
Maribor	HRH	A>G	3	169	57	c.169A>G	Met>Val	Gregoric et al., 2005
Montreal	HND	T>C	3	170	57	c.170T>C	Met>Thr	Skopek et al., 1990
Toowong, PH	LNV	G>A	3	173	58	c.173G>A	Gly>Arg	Sculley et al., 1991
NS	Normal	A>G	3	179	60	c.179A>G	His>Arg	Yamada et al., 2008
NS	HRH	A>G	3	179	60	c.179A>G	His>Arg	new
Case #2	LND	G>C	3	190	64	c.190G>C	Ala>Pro	Yamada et al., 1992
NA	LND	G>C	3	190	64	c.190G>C	Ala>Pro	Yamada et al., 2011a
1/01, Family 18	LND	C>A	3	191	64	c.191C>A	Ala>Asp	Bertelli et al., 2004; de Gemmis et al., 2010
GH	LND	C>A	3	191	64	c.191C>A	Ala>Asp	Marcus et al., 1993a
LN56, JW	HND	C>T	3	193	65	c.193C>T	Leu>Phe	Jinnah et al., 2010; Jinnah et al., 2000; Srivastava et al., 2002
CT	LND	T>C	3	194	65	c.194T>C	Leu>Pro	Jinnah et al., 2000
NS	LND	T>C	3	194	65	c.194T>C	Leu>Pro	Yamada et al., 2004
LN-J	LND	T>C	3	196	66	c.196T>C	Cys>Arg	Jinnah et al., 2000
YG	HRH	T>C	3	200	67	c.200T>C	Val>Ala	new
BO	LND	T>C	3	203	68	c.203T>C	Leu>Pro	Jinnah et al., 2006
DiA, Case 9-5; HA, Case 29-5; NF,BF, Case 5-5;DD;SD;KY	HND	T>C	3	203	68	c.203T>C	Leu>Pro	Jinnah et al., 2010
LN121, BO	LND	T>C	3	203	68	c.203T>C	Leu>Pro	Larovere et al., 2007
LN53, EC	LND	T>G	3	203	68	c.203T>G	Leu>Arg	Jinnah et al., 2000
NS	LND	G>A	3	208	70	c.208G>A	Gly>Arg	Tohyama et al., 1994
Utrecht	LND	G>A	3	208	70	c.208G>A	Gly>Arg	Bouwens-Rombouts et al., 1993
M, 8/00, Family 19	LND	G>T	3	208	70	c.208G>T	Gly>Trp	Bertelli et al., 2004; de Gemmis et al., 2010; Gathof et al., 1996
AL	LND	G>C	3	208	70	c.208G>C	Gly>Arg	Jinnah et al., 2000
1510, JF	LND	G>A	3	209	70	c.209G>A	Gly>Glu	Tarle et al., 1991
955-2, JP	LND	G>A	3	209	70	c.209G>A	Gly>Glu	Tarle et al., 1991
JFS, LN120	LND	G>A	3	209	70	c.209G>A	Gly>Glu	Jinnah et al., 2006
NA	LND	G>A	3	209	70	c.209G>A	Gly>Glu	Larovere et al., 2007
New Haven, DG	LND	G>A	3	209	70	c.209G>A	Gly>Glu	Davidson et al., 1989b
NS	LND	G>A	3	209	70	c.209G>A	Gly>Glu	Tohyama et al., 1994
NS	LND	G>A	3	209	70	c.209G>A	Gly>Glu	Yamada et al., 2004
RT	LND	G>A	3	209	70	c.209G>A	Gly>Glu	new
Yale, KT	LND	G>C	3	211	71	c.211G>C	Gly>Arg	Fujimori et al., 1989a, b
106/01, Family 20	LND	G>A	3	212	71	c.212G>A	Gly>Asp	Bertelli et al., 2004; de Gemmis et al., 2010
DW, SW	LND	G>T	3	212	71	c.212G>T	Gly>Val	Jinnah et al., 2000
NS	HND	G>T	3	212	71	c.212G>T	Gly>Val	Willers et al., 1999
Madrid I, Case 16-12	HND	G>T	3	212	71	c.212G>T	Gly>Val	Bouwens-Rombouts et al., 1993; Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000
NS	HND	G>T	3	212	71	c.212G>T	Gly>Val	Yamada et al., 2011a
Tachikawa, HK	HRH	A>G	3	215	72	c.215A>G	Tyr>Cys	Fujimori et al., 1994
Seoul	HRH	A>G	3	215	72	c.215A>G	Tyr>Cys	Choi et al., 1993; Kim et al., 1997
Case II.1, II.4	HRH	A>G	3	215	72	c.215A>G	Tyr>Cys	Sebesta et al., 2008
NS	HRH	A>G	3	215	72	c.215A>G	Tyr>Cys	Yamada et al., 2011a; Yamada et al., 2004
Family II	LND	T>G	3	220	74	c.220T>G	Phe>Val	Jurecka et al., 2008
LN139F, O	LND	T>G	3	220	74	c.220T>G	Phe>Val	new
LN58, SJ	LND	T>G	3	221	74	c.221T>G	Phe>Cys	Jinnah et al., 2000
DW	LND	C>A	3	222	74	c.222C>A	Phe>Leu	Sege-Peterson et al., 1992
Family III	LND	C>A	3	222	74	c.222C>A	Phe>Leu	Jurecka et al., 2008; Popowska et al., 1998
Perth, BB	LND	C>A	3	222	74	c.222C>A	Phe>Leu	Sculley et al., 1991
Flint, RJK 892, AC	LND	C>A	3	222	74	c.222C>A	Phe>Leu	Davidson et al., 1988b; Gibbs et al., 1989
1522, GH	LND	C>A	3	222	74	c.222C>A	Phe>Leu	Tarle et al., 1991
NS	LND	C>A	3	222	74	c.222C>A	Phe>Leu	Yamada et al., 2011a
Taichung	LND	C>G	3	222	74	c.222C>G	Phe>Leu	Lee et al., 1995; Mak et al., 2000
Swan, DW	LNV	C>G	3	232	78	c.232C>G	Leu>Val	Sculley et al., 1991
Case #3	LND	T>A	3	233	78	c.233T>A	Leu>Gln	Yamada et al., 1992
Arlington, MS, WB	HND	A>T	3	239	80	c.239A>T	Asp>Val	Davidson et al., 1989b; Jinnah et al., 2010
NS	HRH	A>G	3	293	98	c.293A>G	Asp>Gly	Wong et al., 2008
LN139C, H4755, B	LND	A>G	3	293	98	c.293A>G	Asp>Gly	new
Rumania	HND	T>G	3	295	99	c.295T>G	Phe>Val	new
Family IV	HND	T>G	3	295	99	c.295T>G	Phe>Val	Jurecka et al., 2008
Munich, IV	HRH	A>G	3	310	104	c.310A>G	Ser>Arg	Wilson et al., 1986; Wilson et al., 1983
DB	HRH	C>T	4	329	110	c.329C>T	Ser>Leu	Wilson et al., 1986
London, GS	HRH	C>T	4	329	110	c.329C>T	Ser>Leu	Wilson et al., 1986; Wilson et al., 1983
Family 1	HRH	A>C	4	370	124	c.370A>C	Thr>Pro	Yamada et al., 2007
DW	HND	C>G	4	371	124	c.371C>G	Thr>Ser	Jinnah et al., 2000
MC	HRH	T>C	4	374	125	c.374T>C	Leu>Ser	new
TP	LND	G>T	4	379	127	c.379G>T	Gly>Val	new
375 [4]	LND	T>A	5	389	130	c.389T>A	Val>Asp	Tarle et al., 1991
Midland, RJK 896, JH	LND	T>A	5	389	130	c.389T>A	Val>Asp	Davidson et al., 1988a; Gibbs et al., 1989
RJK 1784	LND	T>C	5	392	131	c.392T>C	Leu>Ser	Gibbs et al., 1989
EG	LND	T>G	5	392	131	c.392T>G	Leu>Trp	new
LN-C, LN30, SM	LND	T>G	5	395	132	c.395T>G	Ile>Ser	Jinnah et al., 2000
Runcorn	NA	T>C	5	395	132	c.395T>C	Ile>Thr	Davidson et al., 1991
Ann Arbor, KC, TC	HRH	T>G	5	396	132	c.396T>G	Ile>Met	Fujimori et al., 1988; Wilson et al., 1986
Zaragoza I	HRH	G>A	5	397	133	c.397G>A	Val>Met	Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000
NS	HRH	A>T	6	404	135	c.404A>T	Asp>Val	Willers et al., 1999
Yeronga, SB	LNV	A>G	6	404	135	c.404A>G	Asp>Gly	Sculley et al., 1992
PA	HRH	A>G	6	404	135	c.404A>G	Asp>Gly	new
JG	LND	T>A	6	407	136	c.407T>A	Ile>Lys	Jinnah et al., 2000
Marseille,BC;FC;NC;WC;LC	HRH	T>C	6	407	136	c.407T>C	Ile>Thr	Dussol et al., 2004; Jinnah et al., 2010
Jerusalem	HND	T>C	6	410	137	c.410T>C	Ile>Thr	Zoref-Shani et al., 2003, 2004
NS	LND	A>C	6	415	139	c.415A>C	Thr>Pro	Yamada et al., 2008; Yamada et al., 2011a
2027124, Family 21	LND	G>C	6	418	140	c.418G>C	Gly>Arg	Bertelli et al., 2004; de Gemmis et al., 2010
Tokyo, YY	LND	G>A	6	419	140	c.419G>A	Gly>Asp	Fujimori et al., 1992; Fujimori et al., 1991; Fujimori et al., 1994
Family 32 (LN111, BM)	LND	G>A	6	419	140	c.419G>A	Gly>Asp	O'Neill, 2004
Potenza, LC	NA	C>T	6	439	147	c.439C>T	Leu>Phe	Micheli et al., 2002
NS	HND	T>C	6	440	147	c.440T>C	Leu>Pro	Yamada et al., 2004
Family 22	HND	T>C	6	440	147	c.440T>C	Leu>Pro	de Gemmis et al., 2010
NS	HND	T>G	6	449	150	c.449T>G	Val>Gly	Chiong et al., 2006
Sardinia, Case 33-27	HND	C>T	6	463	155	c.463C>T	Pro>Ser	Cossu et al., 2002; Cossu et al., 2006; Jinnah et al., 2010
Niigata, DS	HRH	G>T	6	472	158	c.472G>T	Val>Phe	Fujimori et al., 1994
NA	HRH	G>T	6	472	158	c.472G>T	Val>Phe	Yamada et al., 2011a
47-07	LND	T>G	6	473	158	c.473T>G	Val>Gly	Corrigan et al., 2011
NS	HND	A>G	6	475	159	c.475A>G	Lys>Glu	Yamada et al., 2004
NG	HND	A>G	6	475	159	c.475A>G	Lys>Glu	new
LN167, RT	LND	A>C	6	476	159	c.476A>C	Lys>Thr	new
Family VII (patient 9; 10)	LNV	G>A	6	481	161	c.481G>A	Ala>Thr	Jurecka et al., 2008; Popowska et al., 1998
Milwaukee, RJK 949, JM	HRH	G>T	6	481	161	c.481G>T	Ala>Ser	Davidson et al., 1989b; Gibbs et al., 1989
Family VIII	LND	C>A	6	482	161	c.482C>A	Ala>Glu	Jurecka et al., 2008; Popowska et al., 1998
LN3, CJW	LND	C>A	6	482	161	c.482C>A	Ala>Glu	Jinnah et al., 2000
09-00	LND	A>C	7	484	162	c.484A>C	Ser>Arg	Corrigan et al., 2011
03-mei	LND	G>A	7	485	162	c.485G>A	Ser>Asn	Corrigan et al., 2011
OB	HRH	G>C	7	485	162	c.485G>C	Ser>Thr	new
Farnham	LNV	C>G	7	486	162	c.486C>G	Ser>Arg	Boyd et al., 1993; Davidson et al., 1991
NS	LND	C>G	7	486	162	c.486C>G	Ser>Arg	Yamada et al., 2011a
73-01	LND	T>C	7	488	163	c.488T>C	Leu>Ser	Corrigan et al., 2011
III-2, V-2,V-3	HND	G>T	7	500	167	c.500G>T	Arg>Met	Sarafoglou et al., 2010
Case 19-15	HND	G>C	7	500	167	c.500G>C	Arg>Thr	Jinnah et al., 2010
Brisbane, FC	HRH	C>T	7	503	168	c.503C>T	Thr>Ile	Gordon, 1990
Family XI	HRH	C>T	7	526	176	c.526C>T	Pro>Ser	Jurecka et al., 2008; Popowska et al., 1998
Marlow	LNV	C>T	7	527	176	c.527C>T	Pro>Leu	Boyd et al., 1993; Davidson et al., 1991
RJK 2185	LND	G>T	7	529	177	c.529G>T	Asp>Tyr	Gibbs et al., 1990
NS	LND	A>T	7	530	177	c.530A>T	Asp>Val	Nguyen et al., 2011
TA	LND	A>T	7	530	177	c.530A>T	Asp>Val	new
LN4, LN14, ADC	LND	G>A	8	539	180	c.539G>A	Gly>Glu	Jinnah et al., 2000
LN139A, G8081, JG	LND	G>A	8	539	180	c.539G>A	Gly >Glu	new
Family 39 (LN102, ME)	LND	T>C	8	541	181	c.541T>C	Phe>Leu	O'Neill, 2004
LN216, KD	LND	T>C	8	541	181	c.541T>C	Phe>Leu	new
1734, BF, JF, Case 15-9	HND	T>C	8	548	183	c.548T>C	Ile>Thr	Jinnah et al., 2010; Sege-Peterson et al., 1992; Tarle et al., 1991
India II	LND	C>A	8	550	184	c.550C>A	Pro>Thr	new
OA;MA	HND	A>T	8	554	185	c.554A>T	Asp>Val	new
MB	HND	A>T	8	554	185	c.554A>T	Asp>Val	new
NS, Family 2	HRH	A>G	8	554	185	c.554A>G	Asp>Gly	Ishida et al., 2008; Yamada et al., 2007
48-99 [5]	HRH	G>C	8	558	186	c.558G>C	Lys>Asn	Corrigan et al., 2011
Case #1	HND	T>C	8	563	188	c.563T>C	Val>Ala	Yamada et al., 1991; Yamada et al., 1992
LN36, JJN	LND	G>T	8	565	189	c.565G>T	Val>Leu	Jinnah et al., 2000
LN73, AS	LND	G>C	8	568	190	c.568G>C	Gly>Arg	Jinnah et al., 2000
Family XII	LND	G>A	8	569	190	c.569G>A	Gly>Glu	Jurecka et al., 2008; Popowska et al., 1998
Patient 3	LND	G>A	8	569	190	c.569G>A	Gly>Glu	Mak et al., 2000
29-aug	HRH	G>A	8	574	192	c.574G>A	Ala>Thr	Corrigan et al., 2011
NS	HRH	C>T	8	575	192	c.575C>T	Ala>Val	Yamada et al., 2004
07-jan	HRH	C>T	8	577	193	c.577C>T	Leu>Phe	Corrigan et al., 2011
JM	HND	T>G	8	579	193	c.579T>G	Leu>Arg	Marcus et al., 1993a
Kinston, RJK 2188, ES	LND	G>A	8	580	194	c.580G>A	Asp>Asn	Gibbs et al., 1990; Jinnah et al., 2006; Wilson and Kelley, 1983; Wilson and Kish, 1996
EC	LND	G>T	8	580	194	c.580G>T	Asp>Tyr	Jinnah et al., 2000; Jinnah et al., 2006
LN46, FD	LND	G>C	8	580	194	c.580G>C	Asp>His	Jinnah et al., 2000
Moose Jaw, Cases 44-33, 46-33	HND	C>G	8	582	194	c.582C>G	Asp>Glu	Jinnah et al., 2010; Lightfoot et al., 1994
Case 21-17	HND	A>C	8	584	195	c.584A>C	Tyr>Ser	Jinnah et al., 2010; Larovere et al., 2007; Larovere et al., 2004
Cases 27-22, 35-22	HND	A>C	8	584	195	c.584A>C	Tyr>Ser	Jinnah et al., 2010; Larovere et al., 2007; Larovere et al., 2004
LN203C, NP	LNV	A>C	8	584	195	c.584A>C	Tyr>Ser	new
Dirranbandi, CC [6]	LNV	A>G	8	584	195	c.584A>G	Tyr>Cys	Sculley et al., 1992
NS	HRH	A>G	8	584	195	c.584A>G	Tyr>Cys	Yamada et al., 2004
NS	HND	A>G	8	586	196	c.586A>G	Asn>Asp	Willers et al., 1999
58/01, Family 23	LND	A>T	8	590	197	c.590A>T	Glu>Val	Bertelli et al., 2004; de Gemmis et al., 2010
LN15, Brasil	LND	A>T	8	590	197	c.590A>T	Glu>Val	Jinnah et al., 2000; O'Neill et al., 1999
New Brighton, RJK 950, EC	LND	T>G	8	595	199	c.595T>G	Phe>Val	Davidson et al., 1989b; Gibbs et al., 1989
PB;AB	LND	T>G	8	595	199	c.595T>G	Phe>Val	new
LP, Case 38-30	HND	T>G	8	596	199	c.596T>G	Phe>Cys	Ea et al., 2009; Jinnah et al., 2010
DG;MG	HND	C>T	8	597	199	c.597C>G	Phe>Leu	new
BT, LN39, Case 17-13	HND	G>C	8	599	200	c.599G>C	Arg>Thr	Hidalgo-Laos et al., 1997; Jinnah et al., 2010
RB, Case 14-11	HND	G>A	8	601	201	c.601G>A	Asp>Asn	Jinnah et al., 2010; Sege-Peterson et al., 1992
GM	LND	G>T	8	601	201	c.601G>T	Asp>Tyr	Sege-Peterson et al., 1992
DB	LND	A>T	8	602	201	c.602A>T	Asp>Val	Jinnah et al., 2000
Ashville, PC	LNV	A>G	8	602	201	c.602A>G	Asp>Gly	Davidson et al., 1989a
LN206, JF,Case 26-21 [7]	HND	A>G	8	602	201	c.602A>G	Asp>Gly	Jinnah et al., 2010
27/01, Family 24	LND	G>T	8	606	202	c.606G>T	Leu>Phe	Bertelli et al., 2004; de Gemmis et al., 2010
H768	LND	C>T	9	610	204	c.610C>T	His>Tyr	Tvrdik et al., 1998
RJK 1874	LND	C>G	9	610	204	c.610C>G	His>Asp	Gibbs et al., 1989
RJK 2079	LND	C>G	9	610	204	c.610C>G	His>Asp	Gibbs et al., 1989
Case1, Family 1	LND	C>G	9	610	204	c.610C>G	His>Asp	Jinnah et al., 2006
BM	LND	A>G	9	611	204	c.611A>G	His>Arg	Jinnah et al., 2000
779, JD	LND	A>G	9	611	204	c.611A>G	His>Arg	Tarle et al., 1991
BW	LND	A>G	9	611	204	c.611A>G	His>Arg	new
LN155, KH	LND	A>T	9	611	204	c.611A>T	His>Leu	new
Reading	LND	G>A	9	617	206	c.617G>A	Cys>Tyr	Boyd et al., 1993; Davidson et al., 1991
RJK 1727	LND	G>A	9	617	206	c.617G>A	Cys>Tyr	Gibbs et al., 1989
LN27, AH	LND	G>A	9	635	212	c.635G>A	Gly>Glu	Jinnah et al., 2000
MD	LND	G>A	9	635	212	c.635G>A	Gly>Glu	new

Notes:

[1] OldNC designates an old nomenclature for mutations. NB: Omitted on small screens and mobile devices to increase readability.
[2] HGVS designates human genome variation society. See website: http://www.hgvs.org.
[3] NS designates a mutation for which no identifying information was provided for nomenclature.
[4] A subsequent re-analysis of this case (Tarle et al., 1991) provided a different result shown as DL (Jinnah et al., 2000) in Table 3.
[5] Previously reported as p.Lys186Asp (Corrigan et al., 2011).
[6] Quoted in prior review (Sculley et al., 1992) but not published in primary literature.
[7] Genomic DNA revealed the base substitution A602G predicting D201G, but mRNA showed exclusion of exon 8, suggesting a coding region error leading to a splicing defect.

Cerca

Missense point mutations