SCN1A mutation database!

SCN1A mutations list 17/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
801	IVS15	c.2946+1G>T		DIIS6	Splice donor site	ND	CGE(FS)	De novo	Harkin LA.2007
							SMEI	De novo	Sun H.2010
							SME	NA	Xu X.2014
							Epilepsy and/or NDD	NA	Lindy AS.2018
802	IVS15	c.2946+1_2946+2delGT		DIIS6	Splice donor site	ND	SMEI	NA	Xu X.2015
803	IVS15	c.2946+1_2946+2dupGT		DIIS6	Splice donor site	ND	Ep and/or NDD	NA	Lindy AS.2018
804	IVS15	c.2946+1delG		DIIS6	Splice donor site	ND	SMEI	NA	Xu X.2015
805	IVS15	c.2946+5G>A		DIIS6	Splice donor site	ND	Ep and/or NDD	NA	Lindy AS.2018
805	IVS15	c.2946+5G>A		DIIS6	Splice donor site	ND	GEFS+	Familial(NA)	Passamonti C.2015
806	IVS15	c.2946+2T>G		DIIS6	Splice donor site	ND	Ep and/or NDD	NA	Lindy AS.2018
807	IVS15	c.2947-4_-12del		DIIS6	Splice acceptor site	ND	SME	NA	Lee HF.2014
808	IVS15	c.2947-10T>G		DIIS6	Splice donor site	ND	SME(probable)	De novo	Depienne C.2009
809	16	c.2947G>T	p.Val983Phe	DIIS6	Missense	N→N (50)	SMEI	NA	Martin P.2010
810	IVS15	c.2947-1G>A		DIIS6	Splice acceptor site	ND	Ep and/or NDD	NA	Lindy AS.2018
811	IVS15	c.2947-2A>C		DIIS6	Splice acceptor site	ND	Ep and/or NDD	NA	Lindy AS.2018
812	16	c.2948T>C	p.Val983Ala	DIIS6	Missense	N→N (64); pLOF	ICEGTC	De novo	Fujiwara T.2003
813	16	c.2948delT	p.Val983AlafsX2	DIIS6	Frameshift	Haploinsufficiency	SMEI	De novo	Wang Y.2017
814	16	c.2954A>T	p.Asn985Ile	DIIS6	Missense	P/O→N (149); LOF	SMEI	NA	Fujiwara T.2003
815	16	c.2954A>G	p.Asn985Ser	DIIS6	Missense	P/O→P/O (46)	SMEI	NA	Cetica V.2017
816	16	c.2956C>T	p.Leu986Phe	DIIS6	Missense	N→N (22); LOF	SMEI	De novo	Claes L.2001
817	16	c.2957T>C	p.Leu986Pro	DIIS6	Missense	N→N (98)	Unclassified	NA	Depienne C.2009
818	16	c.2958delC	p.Leu988TrpfsX5	DIIS6	Frameshift	Haploinsufficiency	SMEI	NA	Ishii A.2017
819	16	c.2959T>C	p.Phe987Leu	DIIS6	Missense	N→N (22)	SMEI	De novo	Wang JW.2012
820	16	c.2966C>T	p.Ala989Val	DIIS6	Missense	N→N (64)	Ep and/or NDD	NA	Lindy AS.2018
821	16	c.2970G>T	p.Leu990Phe	DIIS6	Missense	N→N (22)	SMEI	NA	Hattori J.2008
822	16	c.2971_2972delCTinsG	p.Leu991ValfsX2	DIIS6	Frameshift	Haploinsufficiency	SMEI	De novo	Kwong AK.2012
823	16	c.2971delC	p.Leu991PhefsX2	DIIS6	Frameshift	Haploinsufficiency	SMEI	De novo	Usluer S.2016
824	16	c.2979C>G	p.Ser993Arg	DII-DIII	Missense	P/O→P/﹢ (110)	SMEB	NA	Zuberi SM.2011
825	16	c.2980_2981delTC	p.Ser994IlefsX2	DII-DIII	Frameshift	Haploinsufficiency	SMEI	NA	Xu X.2015
826	16	c.2981delC	p.Ser994fsX16	DII-DIII	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
827	16	c.2983T>C	p.Phe995Leu	DII-DIII	Missense	N→N (22)	SMEI	NA	Ishii A.2017
828	16	c.2985T>G	p.Phe995Leu	DII-DIII	Missense	N→N (22)	SME	NA	Xu X.2014
828	16	c.2985T>G	p.Phe995Leu	DII-DIII	Missense	N→N (22)	Epilepsy and/or NDD	NA	Lindy AS.2018
829	16	c.2993A>G	p.Asp998Gly	DII-DIII	Missense	P/﹣→N (94)	SMEI	NA	Depienne C.2009
830	16	c.2994C>A	p.Asp998Glu	DII-DIII	Missense	P/﹣→P/﹣(45)	Ep and/or NDD	NA	Lindy AS.2018
831	16	c.2994delC	p.Asp998GlufsX12	DII-DIII	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
832	16	c.2995_2999del5ins8	p.Asn999_Leu1000delinsLeu,Ile,Ser	DII-DIII	In-frame deletion	ND	SMEI	NA	Zuberi SM.2011
833	16	c.3006delC	p.Ala1002fsX8	DII-DIII	Frameshift	Haploinsufficiency	SMEB	De novo	Ohmori I.2002
834	16	c.3007delA	p.Ile1003fsX	DII-DIII	Frameshift	Haploinsufficiency	SMEI	NA	Esterhuizen AI.2018
835	16	c.3017delA	p.Asp1006fsX4	DII-DIII	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
836	16	c.3018T>G	p.Asp1006Glu	DII-DIII	Missense	P/﹣→P/﹣(45)	Unclassified	Familial(Maternal)	Zuberi SM.2011
837	16	c.3022G>T	p.Glu1008X	DII-DIII	Nonsense	Haploinsufficiency	SMEB-SW	De novo	Harkin LA.2007
837	16	c.3022G>T	p.Glu1008X	DII-DIII	Nonsense	Haploinsufficiency	SMEI	NA	Rodda JM.2012
838	16	c.[3032A>T];[2422A>T]	p.[Asn1011Ile];[Thr808Ser]	DII-DIII	Missense	[P/O→N (149)]+[P/O→P/O (58); IE]	ICEGTC	De novo	Fujiwara T.2003
838	16	c.[3032A>T];[2422A>T]	p.[Asn1011Ile];[Thr808Ser]	DII-DIII	Compound	[P/O→N (149)]+[P/O→P/O (58); IE]	ICEGTC	De novo	Rhodes TH.2005
839	16	c.3034delins28	p.Leu1012delins9	DII-DIII linker	Frameshift	Haploinsufficiency	DS	De novo	Wu YW.2015
840	16	c.3044C>T	p.Ala1015Val	DII-DIII	Missense	N→N (64)	SMEI	NA	L?fgren A.2010(unpublished)
841	16	c.3058delC	p.His1020ThrfsX4	DII-DIII	Frameshift	Haploinsufficiency	IE	NA	Wang JW.2012
842	16	c.3061G>T	p.Glu1021X	DII-DIII	Nonsense	Haploinsufficiency	SMEI	De novo	Nicita F.2010
843	16	c.3062_3066delAAGGA	p.Lys1021fsX10	DII-DIII	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
844	16	c.3075T>G	p.Tyr1025X	DII-DIII	Nonsense	Haploinsufficiency	IE	NA	Wang JW.2012
845	16	c.3079A>T	p.Lys1027X	DII-DIII	Nonsense	Haploinsufficiency	SMEI	De novo	Ohmori I.2002
846	16	c.3094G>A	p.Glu1032X	DII-DIII	Nonsense	Haploinsufficiency	SMEI	NA	Lin W.2010
847	16	c.3094G>T	p.Glu1032X	DII-DIII	Nonsense	Haploinsufficiency	SMEI	NA	Rocca FE.2010
847	16	c.3094G>T	p.Glu1032X	DII-DIII	Nonsense	Haploinsufficiency	SMEI	NA	Moller RS.2016
848	16	c.3096delA	p.Glu1032AspfsX14	DII-DIII	Frameshift	Haploinsufficiency	SMEI	De novo	Harkin LA.2007
849	16	c.3101T>C	p.Ile1034Thr	DII-DIII	Missense	N→P/O (89)	ASD	Familial(Paternal,asympt),p=1/2	Weiss LA.2003
850	16	c.3103C>T	p.Gln1035X	DII-DIII	Nonsense	Haploinsufficiency	SMEI	NA	Ishii A.2017

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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.