SCN1A mutation database!

SCN1A mutations list 13/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
601	13	c.2306T>A	p.Phe769Tyr	DIIS1	Missense	N→P/O (22)	GEFS+	Familial.Paternal,asympt),P=1/3	Cetica V.2017
602	13	c.2315dupT	p.Ala773GlyfsX26	DIIS1	Frameshift	Haploinsufficiency	NA	De novo	L?fgren A.2010(unpublished)
603	13	c.2317_2318delGCinsACCCATTTGTTGACCTGG	p.Ala773ThrfsX31	DIIS1	Frameshift	Haploinsufficiency	EE (early infantile)	De novo	Wei CM.2018
604	13	c.2318_2319insT	p.Ile774HisfsX25	DIIS1	Frameshift	Haploinsufficiency	SMEI	NA	Xu X.2015
605	13	c.2324_2326delCCA	p.Thr775del	DIIS1	In-frame deletion	ND	SMEI	NA	Aljaafari D.2017
606	13	c.2339_2340insTAT	p.Leu780delinsFI	DIIS1	In-frame deletion/Insertion	ND	Ep and/or NDD	NA	Lindy AS.2018
607	13	c.2348T>C	p.Leu783Pro	DIIS1	Missense	N→N (98)	SMEI	De novo	Harkin LA.2007
608	13	c.2353A>G	p.Met785Val	DIIS1-S2	Missense	N→N (21)	SMEI	NA	Xu X.2015
609	13	c.2354T>C	p.Met785Thr	DIIS1-S2	Missense	N→P/O (81)	SMEI	De novo	Zuberi SM.2011
609	13	c.2354T>C	p.Met785Thr	DIIS1-S2	Missense	N→P/O (81)	Epilepsy and/or NDD	NA	Lindy AS.2018
610	13	c.2356G>A	p.Ala786Thr	DIIS1-S2	Missense	N→P/O (58)	SMEI	NA	Cetica V.2017
611	13	c.2362G>A	p.Glu788Lys	DIIS1-S2	Missense	P/﹣→P/﹢(56)	SME	NA	Hattori J.2008
612	13	c.2369A>G	p.Tyr790Cys	DIIS1-S2	Missense	P/O→N (194)	GEFS+	Familial(Paternal,FS),P=3/3	Annesi G.2003
							PS	Familial	Orrico A.2009
							GEFS+	NA	Bechi G.2015
							Panayiotopoulos syndrome	NA	Bennett CA.2017
613	13	c.2369A>T	p.Tyr790Phe	DIIS1-S2	Missense	P/O→N (22)	PS	De novo	Grosso S.2007
							GEFS+	Familial(Paternal,asympt),P=1/2,Affected generations:2	Cetica V.2017
							PS	Familial.Paternal,asympt),P=1/2	Cetica V.2017
614	13	c.2370dupT	p.Pro791SerfsX8	DIIS1-S2	Frameshift	Haploinsufficiency	NA	NA	L?fgren A.2010(unpublished)
615	13	c.2370T>A	p.Tyr790X	DIIS1-S2	Nonsense	Haploinsufficiency	SMEI	De novo	Depienne C.2009
616	13	c.2371C>T	p.Gln791X	DIIS1-S2	Nonsense	Haploinsufficiency	SMEI	De novo	Esterhuizen AI.2018
617	13	c.2412C>G	p.Asn804Lys	DIIS2	Missense	P/O→P/﹢ (94)	SMEI	NA	Cetica V.2017
618	13	c.2415G>A		DIIS2	Splice donor site	ND	SMEI	De novo	Marini C.2007
619	IVS13	c.2415+5G>A		DIIS2	Splice donor site	ND	PEFS+	NA	Kim YO.2014
619	IVS13	c.2415+5G>A		DIIS2	Splice donor site	ND	PEFS+	NA	Mahdieh N.2018
620	IVS13	c.2415+1G>A		DIIS2	Splice donor site	ND	SMEI	NA	Cho MJ.2018
621	IVS13	c.2416-1G>A		DIIS2	Splice acceptor site	ND	SMEI	De novo	Zuberi SM.2011
621	IVS13	c.2416-1G>A		DIIS2	Splice acceptor site	ND	SMEI	De novo	Mahdieh N.2018
622	IVS13	c.2416-2A>C		DIIS2	Splice acceptor site	ND	SMEI	NA	Rilstone JJ.2012
623	IVS13	c.2416-2A>G		DIIS2	Splice acceptor site	ND	SMEI	De novo	Mahdieh N.2018
624	14	c.2421delC	p.Phe807LeufsX11	DIIS2	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
625	14	c.[2422A>T] ; [3032A>T]	p.[Thr808Ser] ; [Asn1011Ile]	DIIS2	Missense	[P/O→P/O (58); IE]+[P/O→N (149)]	ICEGTC	De novo	Fujiwara T.2003
625	14	c.[2422A>T] ; [3032A>T]	p.[Thr808Ser] ; [Asn1011Ile]	DIIS2	Compound	[P/O→P/O (58); IE]+[P/O→N (149)]	ICEGTC	De novo	Fujiwara T.2003
626	14	c.2427delG	p.Ile810SerfsX8	DIIS2	Frameshift	Haploinsufficiency	SMEI	De novo	L?fgren A.2010(unpublished)
627	14	c.2435C>T	p.Thr812Ile	DIIS2	Missense	P/O→N (89)	SMEB	NA	Zuberi SM.2011
628	14	c.2435C>G	p.Thr812Arg	DIIS2	Missense	P/O→P/﹢(71)	SMEI	De novo	Mancardi MM.2006
628	14	c.2435C>G	p.Thr812Arg	DIIS2	Missense	P/O→P/﹢(71)	SMEI	NA	Claes LR.2009
629	14	c.2459T>C	p.Ile820Thr	DIIS2	Missense	N→P/O (89)	NA	NA	L?fgren A.2010(unpublished)
630	14	c.2473_2476delTACT	p.Tyr825fs	DIIS2	Frameshift	Haploinsufficiency	SMEI	NA	Martin P.2010
631	14	c.2479T>G	p.Tyr827Asp	DIIS2	Missense	P/O→P/﹣(160)	SMEI	NA	Xu X.2015
632	14	c.2488G>T	p.Glu830X	DIIS2	Nonsense	Haploinsufficiency	SMEI	De novo	Zhang Y.2015
633	14	c.2495G>A	p.Trp832X	DIIS3	Nonsense	Haploinsufficiency	SMEI	NA	Depienne C.2009
634	14	c.2504_2508delTTGAC	p.Phe835TrpfsX7	DIIS3	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
635	14	c.2504T>C	p.Phe835Ser	DIIS3	Missense	N→P/O (155)	Ep and/or NDD	NA	Lindy AS.2018
636	14	c.2505dupT	p.Asp836X	DIIS3	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
637	14	c.2522T>C	p.Val841Ala	DIIS3	Missense	N→N (64)	SMEI	NA	Ko A.2018
638	14	c.2523_2524delGC	p.Thr841fsx1	DIIS3	Frameshift	Haploinsufficiency	SME	Familial(Paternal,EP),P=2/2	Xu XJ.2012b
639	14	c.2525T>G	p.Leu842Arg	DIIS3	Missense	N→P/﹢(102)	SMEI	NA	Zuberi SM.2011
640	14	c.2527A>C	p.Phe843Arg	DIIS3	Missense	N→P/﹢(97)	SMEI	De novo	Depienne C.2009
640	14	c.2527A>C	p.Phe843Arg	DIIS3	Missense	N→P/﹢(97)	SMEI	NA	Depienne C.2009
641	14	c.2528delG	p.Ser843X	DIIS3	Frameshift	Haploinsufficiency	SMEI	De novo	Buoni S.2006
642	14	c.2529C>G	p.Ser843Arg	DIIS3	Missense	P/O→P/﹢ (110)	SMEI	De novo	Depienne C.2009
643	14	c.2531T>G	p.Leu844X	DIIS3	Nonsense	Haploinsufficiency	SME	NA	Dhamija R.2014
644	14	c.2536G>A	p.Glu853Lys	DIIS3	Missense	P/﹣→P/﹢(56)	SMEI	De novo	Mancardi MM.2006
645	14	c.2537A>G	p.Glu846Gly	DIIS3	Missense	P/﹣→N (98)	SME	NA	Xu X.2014
646	14	c.2538delA	p.Glu846AspfsX31	DIIS3	Frameshift	Haploinsufficiency	SMEI	NA	Ishii A.2017
647	14	c.2543delG	p.Gly848AspfsX29	DIIS3	Frameshift	Haploinsufficiency	SMEI	NA	Depienne C.2009
648	14	c.2544dupA	p.Leu849ThrfsX66	DIIS3	Frameshift	Haploinsufficiency	SMEI	NA	Depienne C.2009
649	14	c.2546T>C	p.Leu849Pro	DIIS3	Missense	N→N (98)	GEFS+	NA	Cetica V.2017
650	14	c.2552G>C	p.Arg851Pro	DIIS3	Missense	P/﹢→N (102)	SMEI	De novo	Esterhuizen AI.2018

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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.