SCN1A mutation database!

SCN1A mutations list 16/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
751	15	c.2837G>A	p.Arg946His	DIIS5-S6	Missense	P/﹢→P/﹢(29); LOF	PEFS+	De novo	Liao WP.2010
							SMEB	NA	Fukuma G.2004
							SMEB	De novo	Harkin LA.2007
							SMEI	1De novo;1NA	Depienne C.2009
							SMEI	De novo	Zuberi SM.2011
							SMEI	NA	Verbeek NE.2011
							SMEI	3NA	Volkers L.2011
							SMB	NA	Wang JW.2012
							SME	NA	Verbeek NE.2013
							SME	NA	Villeneuve N.2014
							Epilepsy and/or NDD	NA	Lindy AS.2018
752	15	c.2837G>C	p.Arg946Pro	DIIS5-S6	Missense	P/﹢→N (102)	SME	NA	Xu X.2014
753	15	c.2846G>A	p.Cys949Tyr	DIIS5-S6	Missense	N→P/O (194)	SMEI	De novo	Depienne C.2009
754	15	c.2846G>C	p.Cys949Ser	DIIS5-S6	Missense	N→P/O (112)	SME(Late-onset)	De novo	Depienne C.2009
755	15	c.2848G>C	p.Gly950Arg	DIIS5-S6	Missense	N→P/﹢ (125)	SMEI	De novo	Zuberi SM.2011
756	15	c.2849G>A	p.Gly950Glu	DIIS5-S6	Missense	N→P/﹣(98)	SMEI	De novo	Harkin LA.2007
756	15	c.2849G>A	p.Gly950Glu	DIIS5-S6	Missense	N→P/﹣(98)	SMEI	NA	Rodda JM.2012
757	15	c.2854T>C	p.Trp952Arg	DIIS5-S6	Missense	N→P/﹢ (101)	SMEI	De novo	Lim BC.2011
758	15	c.2854T>G	p.Trp952Gly	DIIS5-S6	Missense	N→N (184)	SMEI	De novo	Sun H.2008a
758	15	c.2854T>G	p.Trp952Gly	DIIS5-S6	Missense	N→N (184)	SMEI	NA	Xu X.2014
759	15	c.2855G>A	p.Trp952X	DIIS5-S6	Nonsense	Haploinsufficiency	SMEI	NA	Fujiwara T.2003
							SMEI	NA	Fukuma G.2004
							IE	NA	Wang JW.2012
760	15	c.2856G>A	p.Trp952X	DIIS5-S6	Nonsense	Haploinsufficiency	SMEB	NA	Zuberi SM.2011
761	15	c.2860G>A	p.Glu954Lys	DIIS5-S6	Missense	P/﹣→P/﹢(56)	SMEI	NA	Zuberi SM.2011
761	15	c.2860G>A	p.Glu954Lys	DIIS5-S6	Missense	P/﹣→P/﹢(56)	SMEI	NA	Arlier Z.2010
762	15	c.2864C>T	p.Thr955Ile	DIIS5-S6	Missense	P/O→N (89)	SMEI	NA	Ishii A.2017
763	15	c.2867T>A	p.Met956Lys	DIIS5-S6	Missense	N→P/﹢(95)	SMEI	De novo	Zuberi SM.2011
764	15	c.2867T>C	p.Met956Thr	DIIS5-S6	Missense	N→P/O (81)	FS+	Familial,P=7/7; P=7/13	Bechi G.2015
764	15	c.2867T>C	p.Met956Thr	DIIS5-S6	Missense	N→P/O (81)	EP + auditory features	Familial,P=7/7; P=7/13	Pippucci T.2015
765	15	c.2869T>C	p.Trp957Arg	DIIS5-S6	Missense	N→P/﹢(101)	SMEI	NA	Cantar
766	15	c.2870G>T	p.Trp957Leu	DIIS5-S6	Missense	N→N (61)	SMEI	NA	Marini C.2007
766	15	c.2870G>T	p.Trp957Leu	DIIS5-S6	Missense	N→N (61)	SMEI	De novo	Zuberi SM.2011
767	15	c.2872delG	p.Asp958ThrfsX16	DIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
768	15	c.2872_2881del10	p.Asp958ArgfsX13	DIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Xu X.2015
769	15	c.2874delC	p.Cys959ValfsX15	DIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Sugawara T.2002
770	15	c.2875T>C	p.Cys959Arg	DIIS5-S6	Missense	N→P/﹢(180); LOF	SMEI	De novo	Claes L.2003
771	15	c.2876G>A	p.Cys959Tyr	DIIS5-S6	Missense	N→P/O (194)	LGS	De novo	Allen AS.2013
771	15	c.2876G>A	p.Cys959Tyr	DIIS5-S6	Missense	N→P/O (194)	SME	NA	Xu X.2014
772	15	c.2876G>C	p.Cys959Ser	DIIS5-S6	Missense	N→P/O (112)	SMEI	De novo	Cetica V.2017
772	15	c.2876G>C	p.Cys959Ser	DIIS5-S6	Missense	N→P/O (112)	SMEI	De novo	Wei CM.2018
773	15	c.2877T>A	p.Cys959X	DIIS5-S6	Nonsense	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
774	15	c.2878A>G	p.Met960Val	DIIS5-S6	Missense	N→N (21)	SMEI	NA	Fujiwara T.2003
775	15	c.2879T>C	p.Met960Thr	DIIS5-S6	Missense	N→P/O (81)	GEFS+	NA	Zuberi SM.2011
776	15	c.2879T>G	p.Met960Arg	DIIS5-S6	Missense	N→P/﹢(91)	SMEI	NA	Xu X.2015
777	15	c.2893C>T	p.Gln965X	DIIS5-S6	Nonsense	Haploinsufficiency	SMEI	NA	Harkin LA.2007
778	15	c.2895_2926del	p.Gln965fsX	DIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Liu J.2018
779	15	c.2901G>T	p.Met967Ile	DIIS6	Missense	N→N (10)	GEFS+	Familial(Maternal,FS),P=1/2	Selmer KK.2008
780	15	c.2902T>G	p.Cys968Gly	DIIS6	Missense	N→N (159)	EE	De novo	de Kovel CG.2016
781	15	c.2903G>T	p.Cys968Phe	DIIS6	Missense	N→N (205)	SMEI	NA	Xu X.2015
782	15	c.2904C>A	p.Cys968X	DIIS6	Nonsense	Haploinsufficiency	SME	De novo	Depienne C.2009
782	15	c.2904C>A	p.Cys968X	DIIS6	Nonsense	Haploinsufficiency	SMEI	De novo	Wang JW.2012
783	15	c.2906T>C	p.Leu969Pro	DIIS6	Missense	N→N (98)	SMEI	De novo	Do TT.2017
784	15	c.2908dupA	p.Thr970AsnfsX9	DIIS6	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
785	15	c.2911G>A	p.Val971Ile	DIIS6	Missense	N→N (29)	SMEI	NA	Cetica V.2017
786	15	c.2911G>C	p.Val971Leu	DIIS6	Missense	N→N (32)	SMEI	De novo	Poryo M.2017
787	15	c.2916_2919delCATG	p.Thr970fsX972	DIIS6	Frameshift	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
788	15	c.2917A>G	p.Met973Val	DIIS6	Missense	N→N (21)	CGE(FS)	Familial(Paternal,asympt),P=1/2	Harkin LA.2007
789	15	c.2918T>A	p.Met973Lys	DIIS6	Missense	N→P/﹢(180)	SMEI	De novo	Depienne C.2009
790	15	c.2923G>C	p.Val975Leu	DIIS6	Missense	N→N (32)	Seizures & developmental delay	NA	Butler KM.2017
791	15	c.2927T>C	p.Met976Thr	DIIS6	Missense	N→P/O (81)	GEFS+	Familial(Maternal)	L?fgren A.2010(unpublished)
792	15	c.2927delT	p.Met976ArgfsX1	DII S6	Frameshift	Haploinsufficiency	DS	NA	Skjei KL.2015
793	15	c.2928G>A	p.Met976Ile	DIIS6	Missense	N→N (10)	GEFS+	Familial	Orrico A.2009
							SMEI	De novo	Zuberi SM.2011
							SMEI	Familial(Paternal,FS+),P=3/3	Petrelli C.2012
							GEFS+	NA	Bennett CA.2017
794	15	c.2929G>A	p.Val977Met	DIIS6	Missense	N→N (21)	SMEI	NA	Xu X.2015
795	15	c.2935G>A	p.Gly979Arg	DIIS6	Missense	N→P/﹢(125); LOF	ICEGTC	NA	Fujiwara T.2003
796	15	c.2936G>T	p.Gly979Val	DIIS6	Missense	N→N (109)	SMEB	NA	Zuberi SM.2011
797	15	c.2936G>A	p.Gly979Glu	DIIS6	Missense	N→P/﹣(98)	SMEI	NA	Xu X.2015
798	15	c.2939A>G	p.Asn980Ser	DIIS6	Missense	P/O→P/O (46)	Ep and/or NDD	NA	Lindy AS.2018
799	15	c.2942T>C	p.Leu981Pro	DIIS6	Missense	N→N (98)	SMEI	NA	Ishii A.2017
800	15	c.2944G>C	p.Val982Leu	DIIS6	Missense	N→N (32)	SMEB-MA	De novo	Singh NA.2009
							PE,AESD	NA	Saitoh M.2012
							AET	NA	Saitoh M.2014
							PE+AESD	De novo	Saitoh M.2015

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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.