SCN1A mutation database!

SCN1A mutations list 14/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
651	14	c.2557G>A	p.Glu853Lys	DIIS3-S4	Missense	P/﹣→P/﹢(56)	SMEI	De novo	Mancardi MM.2006
652	14	c.2560_2565delGGATTA	p.Gly854_Leu855del	DIIS3-S4	In-frame deletion	ND	SMEB	De novo	Zuberi SM.2011
653	14	c.2560G>T	p.Gly854X	DIIS3-S4	Nonsense	Haploinsufficiency	NA	NA	L?fgren A.2010(unpublished)
654	14	c.2561delG	p.Gly854AspfsX23	DIIS3-S4	Frameshift	Haploinsufficiency	SMEI	De novo	Buoni S.2006
654	14	c.2561delG	p.Gly854AspfsX23	DIIS3-S4	Frameshift	Haploinsufficiency	GEFS+	De novo	Orrico A.2009
655	14	c.2562delA	p.Gly854fsX23	DIIS3-S4	Frameshift	Haploinsufficiency	SMEI	De novo	Harkin LA.2007
656	14	c.2569delG	p.Val857PhefsX20	DIIS4	Frameshift	Haploinsufficiency	SME	NA	Depienne C.2009
656	14	c.2569delG	p.Val857PhefsX20	DIIS4	Frameshift	Haploinsufficiency	Epilepsy and/or NDD	NA	Lindy AS.2018
657	14	c.2569G>A	p.Val857Ile	DIIS3-S4	Missense	N→N (29)	Ep and/or NDD	NA	Lindy AS.2018
658	14	c.2575C>T	p.Arg859Cys	DIIS4	Missense	P/﹢→N (180); DE	GEFS+	Familial(Paternal,FS),p=7/7	Barela AJ.2006
							SMEI	De novo	Depienne C.2009
							SMEI	NA	Zuberi SM.2011
659	14	c.2576G>A	p.Arg859His	DIIS4	Missense	P/﹢→P/﹢(29); G-LOF	GEFS+	NA	Volkers L.2011
							PEFS+	Familial(Paternal,GEFS+),P=2/2	Volkers L.2011
							Epilepsy and/or NDD	NA	Lindy AS.2018
							FS+ with absence	Paternal grandfather posttraumatic sz，Maternal grandfather sz with brain tumor	Myers KA.2017
660	14	c.2584C>T	p.Arg862X	DIIS4	Nonsense	Haploinsufficiency	GEFS+	Familial	Orrico A.2009
							SMEB	1De novo;1NA	L?fgren A.2010(unpublished)
							SMEB	NA	Wang JW.2012
							SME	NA	Lee HF.2014
							SME	NA	Xu X.2014
661	14	c.2584C>G	p.Arg862Gly	DIIS4	Missense	P/﹢→N (125)	FE(MCDs)	De novo	Barba C.2014
661	14	c.2584C>G	p.Arg862Gly	DIIS4	Missense	P/﹢→N (125)	MMPSI	De novo	Carranza RD.2011
662	14	c.2585G>A	p.Arg862Gln	DIIS4	Missense	P/﹢→P/O (43)	SMEI	De novo	Zuberi SM.2011
662	14	c.2585G>A	p.Arg862Gln	DIIS4	Missense	P/﹢→P/O (43)	SMEI	NA	Arlier Z.2010
663	14	c.2586A>G		DIIS4	Splice donor site	ND	SMEI	De novo	Marini C.2007
664	14	c.2588T>G	p.Leu863Trp	DIIS4	Missense	N→N (61)	SME	NA	Xu X.2014
665	IVS14	c.2589+1G>C		DIIS4	Splice donor site	ND	SMEI	De novo	Harkin LA.2007
665	IVS14	c.2589+1G>C		DIIS4	Splice donor site	ND	SMEI	NA	Mahdieh N.2018
666	IVS14	c.2589+1G>A		DIIS4	Splice donor site	ND	SMEI	NA	Arlier Z.2010
667	IVS14	c.2589+2T>A		DIIS4	Splice donor site	ND	SMEB-SW	De novo	Harkin LA.2007
668	IVS14	c.2589+2T>C		DIIS4	Splice donor site	ND	SMEI	De novo	Depienne C.2009
669	IVS14	c.2589+3A>T		DIIS4	Splice donor site	Del exon 14; LOF	SMEI	De novo	Harkin LA.2007
							SMEI	De novo	Sun H.2010
							SMEI	NA	Wang JW.2012
							SMEI	NA	Wang JW.2012
							IE	NA	Wang JW.2012
							SME	NA	Xu X.2014
							SME	De novo	Djemie T.2016
							Epilepsy and/or NDD	NA	Lindy AS.2018
670	IVS14	c.2589+7A>G		DIIS4	Splice donor site	ND	SMEI	De novo	Wang JW.2012
671	IVS14	c.2589+1_2589+2dupGT		DIIS4	Splice donor site	ND	Development delay with seizures	De novo	Trump N.2016
672	IVS14	c.2589+2dupT		DIIS4	Splice donor site	ND	Abnormality of the nervous system	NA	Retterer K.2016
673	IVS14	c.2590-1G>C		DIIS4	Splice acceptor site	ND	NA	De novo	L?fgren A.2010(unpublished)
673	IVS14	c.2590-1G>C		DIIS4	Splice acceptor site	ND	SMEI	De novo	Mahdieh N.2018
674	IVS14	c.2590-8T>G		DIIS4	Splice acceptor site	ND	SME	De novo	Bayat . 2015
674	IVS14	c.2590-8T>G		DIIS4	Splice acceptor site	ND	SMEI	NA	Djemie T.2016
675	15	c.2591delT	p.Leu864ArgfsX13	DIIS4	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
676	15	c.2593C>G	p.Arg865Gly	DIIS4	Missense	P/﹢→N (125); G-LOF	SMEI	NA	Volkers L.2011
677	15	c.2593C>T	p.Arg865X	DIIS4	Nonsense	Haploinsufficiency	SMEI	De novo	Ohmori I.2002
							SMEI	NA	Depienne C.2009
							SMEI	NA	Lim BC.2011
							IE	NA	Wang JW.2012
							SME	NA	Xu X.2014
							SMEI	NA	Kothur K.2018
							Epilepsy and/or NDD	NA	Lindy AS.2018
678	15	c.2602_2604delAAG	p.K868del	DIIS4	In-frame deletion	ND	SME	NA	Moehring J.2013
679	15	c.2603delA	p.Lys868fsX7	DIIS4	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
680	15	c.2604G>T	p.Lys868Asn	DIIS4	Missense	P/﹢→P/O (94)	GEFS+	Familial.Maternal,asympt),P=2/3	Cetica V.2017
681	15	c.2608_2614delGCAAAAT	p.Ala870LeufsX5	DIIS4	Frameshift	Haploinsufficiency	SMEI	De novo	Marini C.2007
682	15	c.2615C>A	p.Ser872Tyr	DIIS4	Missense	P/O→P/O (144)	SME	NA	Xu X.2014
683	15	c.2619G>A	p.Trp873X	DIIIS1	Nonsense	Haploinsufficiency	SMEB	NA	Villeneuve N.2014
684	15	c.2624C>A	p.Thr875Lys	DIIS4	Missense	P/O→P/﹢(78)	SME	Familial(Paternal)	Depienne C.2009
							SME	NA	Depienne C.2009
							GEFS+	Familial(Paternal),P=17/18,Affected generations:3	Kivity S.2017
685	15	c.2624C>T	p.Thr875Met	DIIS4	Missense	P/O→N (81); G-LOF	PEFS+	Familial(Paternal,FS),P=10/10	Escayg A.2000
685	15	c.2624C>T	p.Thr875Met	DIIS4	Missense	P/O→N (81); G-LOF	SMEB	NA	Wang JW.2012
686	15	c.2626T>A	p.Leu876Ile	DIIS4	Missense	N→N (5)	SMEI	Familial(Maternal)	Wang JW.2012
687	15	c.2635delC	p.Leu879X	DIIS4-S5	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
688	15	c.2636T>C	p.Leu879Pro	DIIS4-S5	Missense	N→N (98)	SMEI and GEFS+	NA	Moller RS.2016
689	15	c.2639T>C	p.Ile880Thr	DIIS4-S5	Missense	N→P/O (89)	NA	NA	L?fgren A.2010(unpublished)
690	15	c.2639delT	p.Ile880LysfsX14	DIIS4-S5	Frameshift	Haploinsufficiency	SME(probable)	NA	Depienne C.2009
691	15	c.2644A>T	p.Ile882Phe	DIIS4-S5	Missense	N→N (21)	SMEI	De novo	L?fgren A.2010(unpublished)
691	15	c.2644A>T	p.Ile882Phe	DIIS4-S5	Missense	N→N (21)	SMEI	NA	Ishii A.2017
692	15	c.2651G>A	p.Gly884Asp	DIIS4-S5	Missense	N→P/﹣(94)	SMEI	NA	Usluer S.2016
693	15	c.2657C>T	p.Ser886Phe	DIIS4-S5	Missense	P/O→N (155)	SMEI	NA	Cetica V.2017
694	15	c.2665delG	p.Ala889LeufsX5	DIIS4-S5	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
695	15	c.2669T>C	p.Leu890Phe	DIIS4-S5	Missense	N→N (22)	SMEI	De novo	Zuberi SM.2011
							SMEI	De novo	Tsai MH.2018
							DS	NA	Tsai MH.2018
696	15	c.2675delA	p.Asn892IlefsX2	DIIS5	Frameshift	Haploinsufficiency	SME	De novo	Singh NA.2009
697	15	c.2678T>A	p.Leu893X	DIIS5	Nonsense	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
698	15	c.2681C>G	p.Thr894Ser	DIIS5	Missense	P/O→P/O (58)	Ep and/or NDD	NA	Lindy AS.2018
699	15	c.2686G>C	p.Val896Leu	DIIS5	Missense	N→N (32)	SMEI	De novo	Depienne C.2009
700	15	c.2686G>A	p.Val896Ile	DIIS5	Missense	N→N (29)	SMEI	NA	Rilstone JJ.2012
700	15	c.2686G>A	p.Val896Ile	DIIS5	Missense	N→N (29)	IE	NA	Wang JW.2012

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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.