SCN1A mutation database!

SCN1A mutations list 3/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
101	2	c.379C>T	p.His127Tyr	DIS1	Missense	P/﹢→P/O (83)	GEFS+	De novo	Djemie T.2016
102	2	c.380A>T	p.His127Leu	DIS1	Missense	P/﹢→N (99)	SMEI	NA	Xu X.2015
103	2	c.383C>A	p.Ser128X	DIS1	Nonsense	Haploinsufficiency	SMEI	De novo	Nabbout R.2003
							FS+	NA	Zuberi SM.2011
							SME	De novo	Carvill GL.2014
104	IVS2	c.383+1A>G		DIS1	Splice donor site	ND	LGS	De novo	Selmer KK.2009b
104	IVS2	c.383+1A>G		DIS1	Splice donor site	ND	SME	NA	Xu X.2014
105	IVS2	c.383+1A>C		DIS1	Splice donor site	ND	SMEI	De novo	Depienne C.2009
106	IVS2	c.383+2T>G		DIS1	Splice donor site	ND	SMEI	De novo	Mancardi MM.2006
106	IVS2	c.383+2T>G		DIS1	Splice donor site	ND	SMEI	De novo	Mahdieh N.2018
107	IVS2	c.383+5C>A		DIS1	Splice donor site	ND	Ep and/or NDD	NA	Lindy AS.2018
108	IVS2	c.384-1C>G		DIS1	Splice acceptor site	ND	SMEI	NA	Xu X.2015
109	IVS2	c.384-20G>C		DIS1	Splice acceptor site	ND	SMEB	NA	Mahdieh N.2018
110	IVS2	c.384-21T>A		DIS1	Splice acceptor site	ND	GEFS+	NA	Cetica V.2017
111	3	c.387_389delATT	p.Leu129del	DIS1	In-frame deletion	ND	SMEI	De novo	Mancardi MM.2006
112	2	c.393C>G	p.Ser131Arg	DIS1	Missense	P/O→P/﹢ (110)	Intellectual disability, ataxia, stroke-like episodes & seizures	NA	Fry AE.2016
113	3	c.408delCinsGA	p.Cys136TrpfsX14	DIS1	Frameshift	Haploinsufficiency	SMEI	NA	Cho MJ.2018
114	3	c.412_413delAT	p.Ile138PhefsX11	DIS1	Frameshift	Haploinsufficiency	SMEI	Familial(Paternal)	Zuberi SM.2011
115	3	c.413T>C	p.Ile138Thr	DIS1	Missense	N→P/O (89)	SME	De novo	Gaily E.2013
116	3	c.419delC	p.Thr140LysfsX6	DIS1	Frameshift	Haploinsufficiency	SMEB	De novo	L?fgren A.2010(unpublished)
117	3	c.419C>G	p.Thr140Arg	DIS1	Missense	P/O→P/﹢ (78)	SMEI	NA	Ishii A.2017
118	3	c.426dupT	p.Val143fsX16	DIS1	Frameshift	Haploinsufficiency	SMEI	De novo	Wang JW.2012
119	3	c.429_430delGT	p.Phe144TyrfsX5	DIS1	Frameshift	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
							SMEI	De novo	Fukuma G.2004
							IE	De novo	Wang JW.2012
							SME	NA	Villeneuve N.2014
120	3	c.433_434delAT	p.Met145AspfsX4	DIS1	Frameshift	Haploinsufficiency	PEFS+	De novo	Yu MJ.2010
121	3	c.433A>G	p.Met145Val	DIS1	Missense	N→N (21)	SMEI	NA	Xu X.2015
122	3	c.434T>C	p.Met145Thr	DIS1	Missense	N→P/O (81); pLOF	PEFS+(FS&TLE)	Familial(Maternal,FS),P=5/5	Mantegazza M.2005,Colosimo E.2007
123	3	c.434T>A	p.Met145Lys	DIS1	Missense	N→P/﹢ (95)	Ep and/or NDD	NA	Lindy AS.2018
124	3	c.437C>A	p.Thr146Lys	DIS1	Missense	P/O→P/﹢(78)	NA	NA	L?fgren A.2010(unpublished)
124	3	c.437C>A	p.Thr146Lys	DIS1	Missense	P/O→P/﹢(78)	Intellectual disability	NA	Anazi S.2017
125	3	c.458G>A	p.Trp153X	DIS1-S2	Nonsense	Haploinsufficiency	SMEB	NA	Zuberi SM.2011
							SMEI	NA	L?fgren A.2010(unpublished)
							SMEI	NA	Ozmen M.2011
126	3	c.459G>A	p.Trp153X	DIS1-S2	Nonsense	Haploinsufficiency	SMEI	NA	Cho MJ.2018
127	3	c.472G>C	p.Glu158Gln	DIS1-S2	Missense	P/-→P/O (29)	Ep and/or NDD	NA	Lindy AS.2018
128	IVS3	c.473+1G>A		DIS2	Splice donor site	ND	SMEI	De novo	Depienne C.2009
129	IVS3	c.473+3A>C		DIS2	Splice donor site	ND	SMEI	Den ovo	Kwong AK.2012
130	IVS3	c.473+5G>A		DIS2	Splice donor site	Normal transcripts﹢ del.exon 3 and partial exon 2	SMEI	NA	Depienne C.2009
131	IVS3	c.473+1G>C		DIS2	Splice donor site	ND	SMEI	NA	Xu X.2015
132	IVS3	c.473+1G>T		DIS2	Splice donor site	ND	SMEI	NA	Ishii A.2017
133	IVS3	c.474-1G>A		DIS2	Splice donor site	ND	SMEI	De novo	Zuberi SM.2011
134	IVS3	c.474-2A>C		DIS2	Splice donor site	ND	SMEI	De novo	Depienne C.2009
135	IVS3	c.474-3C>G		DIS2	Splice acceptor site	ND	FE(MCDs)	De novo	Barba C.2014
136	IVS3	c.[474-13T>A(;)602+5G>A]		DIS2	Splice acceptor site	ND	SMEI	NA	Harkin LA.2007
136	IVS3	c.[474-13T>A(;)602+5G>A]		DIS2	Compound	ND	SMEI	NA	Harkin LA.2007
137	IVS3	c.474-1G>C		DIS2	Splice acceptor site	ND	SMEI	De novo	Zhou P.2018
138	4	c.476delA	p.Tyr159SerfsX13	DIS2	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
139	4	c.484A>C	p.Thr162Pro	DIS2	Missense	P/O→N (38)	SMEI	De novo	Mancardi MM.2006
140	3	c.485C>T	p.Thr162Ile	DIS1-S2	Missense	P/O→N (89)	SMEI	NA	Cetica V.2017
141	4	c.488G>A	p.Gly163Glu	DIS2	Missense	N→P/﹣(98)	SME	NA	Hattori J.2008
142	4	c.495T>A	p.Tyr165X	DIS2	Nonsense	Haploinsufficiency	SMEI	De novo	Nabbout R.2003
143	4	c.495_496ins GTGAATC	p.Thr166ValfsX5	DIS2	Frameshift	Haploinsufficiency	SMEI	De novo	Harkin LA.2007
144	4	c.504dupA	p.Ser169IlefsX108	DIS2	Frameshift	Haploinsufficiency	SME	NA	Le Gal F.2010
144	4	c.504dupA	p.Ser169IlefsX108	DIS2	Frameshift	Haploinsufficiency	FE(MCDs)	NA	Barba C.2014
145	4	c.505T>C	p.Ser169Pro	DIS1-S2	Missense	P/O→N (74)	SMEI	MOSAIC	Yang X.2017
145	4	c.505T>C	p.Ser169Pro	DIS1-S2	Missense	P/O→N (74)	Ep and/or NDD	NA	Lindy AS.2018
146	4	c.512T>A	p.Ile171Lys	DIS2	Missense	N→P/﹢(102)	SMEB-SW	De novo	Harkin LA.2007
147	4	c.512T>G	p.Ile171Arg	DIS2	Missense	N→P/﹢(97)	SMEI	De novo	Depienne C.2009
148	4	c.523G>A	p.Ala175Thr	DIS2	Missense	N→P/O (58)	SMEB-O	De novo	Harkin LA.2007
149	4	c.524C>T	p.Ala175Val	DIS2	Missense	N→N (64)	SMEI	De novo	Depienne C.2009
150	4	c.529G>A	p.Gly177Arg	DIS2-S3	Missense	N→P/﹢(125)	SME	NA	Hattori J.2008
150	4	c.529G>A	p.Gly177Arg	DIS2-S3	Missense	N→P/﹢(125)	SMEI	De novo	Reyes IS.2011

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Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China

Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou 510260, China.