SCN1A mutation database!

SCN1A mutations list 1/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1	1	c.1A>T	p.Met1?	N-terminal	Start codon mutation	ND	SME	NA	Depienne C.2009
2	1	c.2T>C	p.Met1Thr	N-terminal	Start codon mutation	ND	SMEI	NA	Zuberi SM.2011
3	1	c.3G>A	p.Met1?	N-terminal	Start codon mutation	ND	NA	De novo	L?fgren A.2010(unpublished)
4	1	c.7C>T	p.Gln3X	N-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Claes L.2003
4	1	c.7C>T	p.Gln3X	N-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Lim BC.2011
5	1	c.17T>C	p.Leu6Pro	N-terminal	Missense	N→N (98)	GEFS+	Familial.Paternal,asympt),P=1/2	Cetica V.2017
6	1	c.21_22insA c.22C>A	p.Pro8fsX12	N-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Wang JW.2012
7	1	c.28G>T	p.Gly10X	N-terminal	Nonsense	Haploinsufficiency	SMEI-like	NA	L?fgren A.2010(unpublished)
8	1	c.30_34delACCTGinsTACAACTTCTTC	-	N-terminal	Frameshift	Haploinsufficiency	GEFS+	NA	Cetica V.2017
9	1	c.32_36delCTGACinsA	p.Pro11GlnfsX80	N-terminal	Frameshift	Haploinsufficiency	EE (early infantile)	De novo	Wei CM.2018
10	1	c.32delC	p.Pro11LeufsX81	N-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Ishii A.2017
11	1	c.41delT	p.Phe14SerfsX78	N-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Harkin LA.2007
12	1	c.49_51delTTC	p.Phe17del	N-terminal	In-frame deletion	ND	SMEI	NA	Zuberi SM.2011
13	1	c.53_55delCCA	p.Thr18del	N-terminal	In-frame deletion	ND	SMEI	NA	Djemie T.2016
14	1	c.55A>T	p.Arg19X	N-terminal	Nonsense	Haploinsufficiency	SME	NA	Lee HF.2014
15	1	c.58G>T	p.Glu20X	N-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Ceulemans BP.2004
				N-terminal			SME	NA	Depienne C.2009
				N-terminal			IE	NA	Wang JW.2012
16	1	c.67dupG	p.Ala24GlyfsX4	N-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
17	1	c.70G>A	p.Ala24Thr	N-terminal	Missense	N→P/O (58)	SME	NA	Xu X.2014
18	1	c.76G>T	p.Glu26X	N-terminal	Nonsense	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
19	1	c.78_79delAA	p.Arg27ThrfsX17	N-terminal	Frameshift	Haploinsufficiency	GEFS+	NA	L?fgren A.2010(unpublished)
20	1	c.80G>C	p.Arg27Thr	N-terminal	Missense	N→P/﹢(112)	GEFS+	Familial(Paternal,asympt),P=1/2	Nicita F.2010
20	1	c.80G>C	p.Arg27Thr	N-terminal	Missense	N→P/﹢(112)	SMEB	NA	Catarino CB.2011
21	1	c.82C>T	p.Arg28Cys	N-terminal	Missense	P/﹢→N (180)	GEFS+	NA	Lossin C.2009
							Epilepsy and/or NDD	NA	Lindy AS.2018
							GEFS+	Familial(Paternal,asympt),P=2/3,Affected generations:2	Lal D.2016
22	1	c.94G>T	p.Glu32X	N-terminal	Nonsense	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
23	1	c.99G>T	p.Lys33Asn	N-terminal	Missense	P/﹢→P/O (94)	GEFS+	NA	Cetica V.2017
24	1	c.111delC	p.Lys38fsX54	N-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Wallace RH.2003
24	1	c.111delC	p.Lys38fsX54	N-terminal	Frameshift	Haploinsufficiency	SME	De novo	Depienne C.2009
25	1	c.121A>T	p.Lys41X	N-terminal	Nonsense	Haploinsufficiency	SME	NA	Xu X.2014
26	1	c.126delA	p.Asp43MetfsX47	N-terminal	Frameshift	Haploinsufficiency	SME with AE	NA	Takayanagi M.2010
26	1	c.126delA	p.Asp43MetfsX47	N-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Wang JW.2012
27	1	c.127delG	p.Asp43MetfsX49	N-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
28	1	c.133G>A	p.Asp45Asn	N-terminal	Missense	P/﹣→P/O (23)	Unclassified	NA	Zuberi SM.2011
28	1	c.133G>A	p.Asp45Asn	N-terminal	Missense	P/﹣→P/O (23)	Epilepsy-Aphasia,FS+	Familial(Paternal,FS+),P=3/3	Carvill GL.2013
29	1	c.135C>G	p.Asp45Glu	N-terminal	Missense	P/﹣→P/﹣(45)	SMEI	Familial.Paternal,asympt)	Zhou P.2018
30	1	c.140delA	p.Asn47MetfsX45	N-terminal	Frameshift	Haploinsufficiency	EP and NDD	mosaic pathogenic variant	Stosser MB.2018
31	1	c.141delT	p.Asn47LysfsX45	N-terminal	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
32	1	c.172G>T	p.Gly58X	N-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
32	1	c.172G>T	p.Gly58X	N-terminal	Nonsense	Haploinsufficiency	FE(MCDs)	De novo	Barba C.2014
33	1	c.172G>A	p.Gly58Arg	N-terminal	Missense	N→P/﹢ (125)	FS+	Migraine in the maternal line	Della Mina E.2015
34	1	c.173G>T	p.Gly58Val	N-terminal	Missense	N→N (109)	SMEI	NA	Depienne C.2009
35	1	c.181C>T	p.Leu61Phe	N-terminal	Missense	N→N (22)	SMEI	NA	Depienne C.2009
36	1	c.182T>C	p.Leu61Pro	N-terminal	Missense	N→N (98)	SMEI	Heterozygous,paternal mosaic	Nolan D.2016
36	1	c.182T>C	p.Leu61Pro	N-terminal	Missense	N→N (98)	SMEI	Heterozygous,paternal mosaic	Halvorsen M.2016
37	1	c.184delC	p.Pro62fsX30	N-terminal	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
38	1	c.187T>C	p.Phe63Leu	N-terminal	Missense	N→N (22)	SMEI	Familial(Paternal,asympt),P=1/2	Nicita F.2010
39	1	c.195T>A	p.Tyr65X	N-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Zucca C.2008
40	1	c.203T>C	p.Ile68Thr	N-terminal	Missense	N→P/O (89)	SMEB	Familial(Maternal)	Zuberi SM.2011
41	1	c.220T>C	p.Ser74Pro	N-terminal	Missense	P/O→N (74)	FS+	De novo	Marini C.2007
42	1	c.225G>T	p.Glu75Asp	N-terminal	Missense	P/﹣→P/﹣(45)	SMEI	De novo	Arafat A.2017
43	1	c.226C>A	p.Pro76Thr	N-terminal	Missense	N→P/O (38)	SMEI	De novo	Ishii A.2017
44	1	c.230T>C	p.Leu77Pro	N-terminal	Missense	N→N(98)	SMEI	De novo	Kothur K.2018
45	1	c.232G>T	p.Glu78X	N-terminal	Nonsense	Haploinsufficiency	SMEI	NA	Surovy M.2016
46	1	c.233_242delAGGACCTGGAinsGT	p.Glu78GlyfsX7	N-terminal	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
47	1	c.234G>T	p.Glu78Asp	N-terminal	Missense	P/﹣→P/﹣(45)	SMEI	De novo	Nabbout R.2003
48	1	c.235G>A	p.Asp79Asn	N-terminal	Missense	P/﹣→P/O (23)	SMEI	De novo	Zuberi SM.2011
48	1	c.235G>A	p.Asp79Asn	N-terminal	Missense	P/﹣→P/O (23)	Epilepsy and/or NDD	NA	Lindy AS.2018
49	1	c.235G>C	p.Asp79His	N-terminal	Missense	P/﹣→P/﹢(81)	SMEB-O	De novo	Harkin LA.2007
49	1	c.235G>C	p.Asp79His	N-terminal	Missense	P/﹣→P/﹢(81)	SME	De novo	Depienne C.2009
50	1	c.239_244delTGGACC	p.Leu80_Asp81del	N-terminal	In-frame deletion	ND	SMEI	De novo	Usluer S.2016

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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.