SCN1A mutation database!

SCN1A mutations list 15/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
701	15	c.2686G>T	p.Val896Phe	DIIS5	Missense	N→N (50)	SMEB	NA	Wang JW.2012
702	14	c.2686_2694delGTCTTGGCC	p.Val896_Ala898del	DIIS5	In-frame deletion	ND	Ep and/or NDD	NA	Lindy AS.2018
703	15	c.2690T>C	p.Leu897Ser	DIIS5	Missense	N→P/O (145)	SMEI	NA	Xu X.2015
704	15	c.2696T>C	p.Ile899Thr	DIIS5	Missense	N→P/O (89)	GEFS+	Familial	Orrico A.2009
							LGS	De novo	Allen AS.2013
							GEFS+	NA	Bennett CA.2017
705	15	c.2705T>G	p.Phe902Cys	DIIS5	Missense	N→N (205); LOF	SMEI	NA	Ohmori I.2002
706	15	c.2713G>A	p.Ala905Thr	DIIS5	Missense	N→P/O (58)	SMEI	NA	Ishii A.2017
706	15	c.2713G>A	p.Ala905Thr	DIIS5	Missense	N→P/O (58)	Ep and/or NDD	NA	Lindy AS.2018
707	15	c.2713G>C	p.Ala905Pro	DIIS5	Missense	N→N (27)	Developmental and epileptic encephalopathy	De novo	Hamdan FF.2017
708	15	c.2717delT	p.Val906GlyfsX29	DIIS5	Frameshift	Haploinsufficiency	SMEI	NA	Ishii A.2017
709	15	c.2719G>T	p.Val907Phe	DIIS5	Missense	N→N (50)	FE	NA	Hildebrand MS.2016
710	15	c.2722G>C	p.Gly908Arg	DIIS5	Missense	N→P/﹢ (125)	Ep and/or NDD	NA	Lindy AS.2018
711	15	c.2726dupT	p.Met909IlefsX6	DIIS5	Frameshift	Haploinsufficiency	GEFS+	De novo	L?fgren A.2010(unpublished)
712	15	c.2728C>A	p.Gln910Lys	DIIS5	Missense	P/O→P/﹢(53)	SME	NA	Xu X.2014
713	15	c.2729A>T	p.Gln910Leu	DIIS5	Missense	P/O→N (113)	SMEI	NA	Ishii A.2017
714	15	c.2743delA	p.Ser915AlafsX20	DIIS5-S6	Frameshift	Haploinsufficiency	SMEB	De novo	Kearney JA.2006
715	15	c.2752delG	p.Asp918IlefsX17	DIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Sun H.2010
716	15	c.2769G>A	p.Met923Ile	DIIS5-S6	Missense	N→N (10)	SMEI	Paternal	Liu J.2018
717	15	c.2773delA	p.Ser925ValfsX10	DIIS5-S6	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
718	15	c.2780G>T	p.Cys927Phe	DIIS5-S6	Missense	N→N (205)	SMEI	De novo	Depienne C.2009
719	15	c.2782C>T	p.Gln928X	DIIS5-S6	Nonsense	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
720	15	c.2785delC	p.Leu929SerfsX6	DIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Tsuji M.2011
721	15	c.2791C>T	p.Arg931Cys	DIIS5-S6	Missense	P/﹢→N (180)	SMEI	De novo	Ohmori I.2002
							SMEB	De novo	Ohmori I.2002
							SMEI	De novo	Depienne C.2009
							Epilepsy and/or NDD	NA	Lindy AS.2018
722	15	c.2792G>A	p.Arg931His	DIIS5-S6	Missense	P/﹢→P/﹢(29)	Unclassified	NA	Zuberi SM.2011
							SMEI	De novo	L?fgren A.2010(unpublished)
							SME	NA	Catarino CB.2011
							SMEI	NA	Rilstone JJ.2012
							SME	NA	Xu X.2014
							Epilepsy and/or NDD	NA	Lindy AS.2018
723	15	c.2792G>C	p.Arg931Pro	DIIS5-S6	Missense	P/﹢→N (103)	SME	NA	Xu X.2014
724	15	c.2794T>A	p.Trp932Arg	DIIS5-S6	Missense	N→P/﹢ (101)	SMEI	De novo	Kothur K.2018
725	15	c.2796G>C	p.Trp932Cys	DIIS5-S6	Missense	N→N (215)	SMEI	NA	Zuberi SM.2011
726	15	c.2796G>A	p.Trp932X	DIIS5-S6	Nonsense	Haploinsufficiency	SMEI	De novo	Claes L.2003
726	15	c.2796G>A	p.Trp932X	DIIS5-S6	Nonsense	Haploinsufficiency	SME	NA	Dhamija R.2014
727	15	c.2798A>C	p.His933Pro	DIIS5-S6	Missense	P/﹢→N (77)	SMEI	NA	Zuberi SM.2011
728	15	c.2801T>G	p.Met934Arg	DIIS5-S6	Missense	N→P/﹢(91)	Ep and/or NDD	NA	Lindy AS.2018
729	15	c.2802G>C	p.Met934Ile	DIIS5-S6	Missense	N→N (10)	SMEI	De novo	Fukuma G.2004
							SMEI	NA	Depienne C.2009
							SMEI	De novo	Wang JW.2012
							SMEI	NA	Wang JW.2012
730	15	c.2802G>A	p.Met934Ile	DIIS5-S6	Missense	N→N (10)	SMEB	De novo	Fukuma G.2004
							IE	De novo	Wang JW.2012
							SMEI	NA	Zhang C.2018
731	15	c.2803A>C	p.Asn935His	DIIS5-S6	Missense	P/O→P/﹢(68)	PEFS+	Familial(Paternal,GEFS+),P=2/2	Sun H.2008b
732	15	c.2805dupT	p.Asp936X	DIIS5-S6	Frameshift	Haploinsufficiency	NA	NA	L?fgren A.2010(unpublished)
732	15	c.2805dupT	p.Asp936X	DIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Ozmen M.2011
733	15	c.2806G>T	p.Asp936Tyr	DIIS5-S6	Missense	P/﹣→P/O (160)	Ep and/or NDD	NA	Lindy AS.2018
734	15	c.2807A>T	p.Asp936Val	DIIS5-S6	Missense	P/﹣→N (152)	SME	De novo	Lin W.2013
735	15	c.2815C>T	p.His939Tyr	DIIS5-S6	Missense	P/﹢→P/O(83)	SMEI	De novo	Sun H.2010
736	15	c.2816A>G	p.His939Arg	DIIS5-S6	Missense	P/﹢→P/﹢(29)	SMEI	De novo	L?fgren A.2010(unpublished)
737	15	c.[2816A>C(;)5364C>A]	p.[His939Pro(;)Asn1788Lys]	DIIS5-S6	Missense	[P/﹢→N (77); P/O→P/﹢(94)]	SMEI	NA	Depienne C.2009
737	15	c.[2816A>C(;)5364C>A]	p.[His939Pro(;)Asn1788Lys]	DIIS5-S6	Compound	[P/﹢→N (77); P/O→P/﹢(94)]	SMEI	NA	Depienne C.2009
738	15	c.2817C>G	p.His939Gln	DIIS5-S6	Missense	P/﹢→P/O(24); LOF	SMEI	De novo	Claes L.2003
739	15	c.2819C>T	p.Ser940Phe	DIIS5-S6	Missense	P/O→N (155)	SMEI	NA	Wang JW.2012
739	15	c.2819C>T	p.Ser940Phe	DIIS5-S6	Missense	P/O→N (155)	IE	NA	Wang JW.2012
740	15	c.2824_2836del13	p.Leu942AlafsX8	DIIS5-S6	Frameshift	Haploinsufficiency	Unclassified	De novo	Zuberi SM.2011
741	15	c.2824C>G	p.Leu942Val	DIIS5-S6	Missense	N→N (32)	SMEI and GEFS+	NA	Moller RS.2016
742	15	c.2825T>C	p.Leu942Pro	DIIS5-S6	Missense	N→N (98)	SMEI	De novo	Mancardi MM.2006
743	15	c.2827_2830delATTG	p.Ile943CysfsX10	DIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
744	15	c.2828T>A	p.Ile943Asp	DIIS5-S6	Missense	N→P/﹣(168)	SMEI	NA	Depienne C.2009
745	15	c.2831T>C	p.Val944Ala	DIIS5-S6	Missense	N→N (64)	SMEB	De novo	Fukuma G.2004
745	15	c.2831T>C	p.Val944Ala	DIIS5-S6	Missense	N→N (64)	IE	De novo	Wang JW.2012
746	15	c.2831T>A	p.Val944Glu	DIIS5-S6	Missense	N→P/﹣(121)	SMEI	De novo	Harkin LA.2007
746	15	c.2831T>A	p.Val944Glu	DIIS5-S6	Missense	N→P/﹣(121)	SMEI	NA	Rodda JM.2012
747	15	c.2833T>C	p.Phe945Leu	DIIS5-S6	Missense	N→N (22)	SMEI	De novo	Harkin LA.2007
748	15	c.2835delC	p.Arg946fsX8	DIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Fujiwara T.2003
749	15	c.2836C>T	p.Arg946Cys	DIIS5-S6	Missense	P/﹢→N (180); LOF	SMEI	De novo	Fukuma G.2004
							SMEB	NA	Fukuma G.2004
							SMEI	2De novo	Zuberi SM.2011
							SMEI	De novo	Volkers L.2011
							SMEI	De novo	Wang JW.2012
							SMEB	NA	Wang JW.2012
							SME	NA	Xu X.2014
							SME	NA	Lee HF.2014
							Epilepsy and/or NDD	NA	Lindy AS.2018
750	15	c.2836C>A	p.Arg946Ser	DIIS5-S6	Missense	P/﹢→P/O(110)	SIGEI	De novo	Ebach K.2005
750	15	c.2836C>A	p.Arg946Ser	DIIS5-S6	Missense	P/﹢→P/O(110)	TLE-MTS	De novo	Tiefes AM.2019

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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.