SCN1A mutation database!

SCN1A mutations list 21/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1001	19	c.3794T>C	p.Leu1265Pro	DIIIS2	Missense	N→N (98)	SMEI	De novo	Ohmori I.2002
1002	19	c.3797A>C	p.Glu1266Ala	DIIIS2	Missense	P/﹣→N (107)	SMEI	NA	Zuberi SM.2011
1003	19	c.3802_3812del11	p.Leu1268GlyfsX22	DIIIS2	Frameshift	Haploinsufficiency	SMEI	NA	Xu X.2015
1004	19	c.3809A>C	p.Lys1270Thr	DIIIS2	Missense	P/﹢→P/O (78)	PEFS+	Familial(Maternal,GEFS+),P=13/14	Abou-Khalil B.2001
							GEFS+	NA	Sun L.2012
							GEFS+	NA	Epi4K consortium..2017
1005	19	c.3810delA	p.Lys1270AsnfsX21	DIIIS2	Frameshift	Haploinsufficiency	SMEI	De novo	Zucca C.2008
1006	19	c.3812G>A	p.Trp1271X	DIIIS3	Nonsense	Haploinsufficiency	SMEB	NA	Ohmori I.2002
1007	19	c.3818C>T	p.Ala1273Val	DIIIS2	Missense	N→N (64)	SMEI	NA	Xu X.2015
1007	19	c.3818C>T	p.Ala1273Val	DIIIS2	Missense	N→N (64)	SMEI	NA	Peters C.2016
1008	19	c.3820T>A	p.Tyr1274Asn	DIIIS4	Missense	P/O→P/O (143)	GEFS+	Familial(Paternal)	Ebrahimi A.2010
							NA	NA	Moghaddasi M.2011
							GEFS+	NA	Tonekaboni SH.2013
1009	19	c.3821A>C	p.Tyr1274Ser	DIIIS2	Missense	P/O→P/O (144)	SMEI	NA	Xu X.2015
1010	19	c.3823_3837del15	p.Gly1275_Tyr1279del	DIIIS2	In-frame deletion	ND	NA	De novo	L?fgren A.2010(unpublished)
1011	19	c.3824G>T	p.Gly1275Val	DIIIS2	Missense	N→N (109)	NA	NA	Depienne C.2009
1012	19	c.3824G>C	p.Gly1275Ala	DIIIS2	Missense	N→N (60)	EE(SME suspected)	De novo	Veeramah KR.2013
1013	19	c.3824G>A	p.Gly1275Asp	DIIIS2	Missense	N→P/﹣(94)	Ep and/or NDD	NA	Lindy AS.2018
1014	19	c.3828T>A	p.Tyr1276X	DIIIS2	Nonsense	Haploinsufficiency	SME	NA	Xu X.2014
1015	19	c.3829C>T	p.Gln1277X	DIIIS2-S3	Nonsense	Haploinsufficiency	SME	NA	Hattori J.2008
1016	19	c.3850T>C	p.Trp1284Arg	DIIIS3	Missense	N→P/﹢ (101)	Ep and/or NDD	NA	Lindy AS.2018
1017	19	c.3851G>C	p.Trp1284Ser	DIIIS3	Missense	N→P/O(177)	SMEI	De novo	Depienne C.2009
1018	19	c.3851G>A	p.Trp1284X	DIIIS3	Nonsense	Haploinsufficiency	Development delay with seizures	Unknown	Trump N.2016
1019	19	c.3852delG	p.Trp1284CysfsX7	DIIIS3	Frameshift	Haploinsufficiency	SMEI	De novo	Petrelli C.2012
1020	19	c.3852G>A	p.Trp1284X	DIIIS3	Nonsense	Haploinsufficiency	SMEI	NA	Fujiwara T.2003
1021	19	c.3853dupT	p.Cys1285LeufsX9	DIIIS3	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1022	19	c.3858G>A	p.Trp1286X	DIIIS3	Nonsense	Haploinsufficiency	SMEI	De novo	Sun H.2010
1023	19	c.3860T>C	p.Leu1287Pro	DIIIS3	Missense	N→N (98)	SMEI	De novo	Sun H.2010
1024	19	c.3862G>A	p.Asp1288Asn	DIIIS3	Missense	P/﹣→P/O(23)	SMEI	De novo	Zuberi SM.2011
1025	19	c.3863A>G	p.Asp1288Gly	DIIIS3	Missense	P/﹣→N (94)	Ep and/or NDD	NA	Lindy AS.2018
1026	19	c.3867_3869delCTT	p.Phe1289del	DIIIS3	In-frame deletion	LOF	SMEB	De novo	Ohmori I.2002
							SMEI	De novo	Mancardi MM.2006
							SMEI	De novo	Depienne C.2009
1027	19	c.3869T>A	p.Leu1290X	DIIIS3	Nonsense	Haploinsufficiency	SMEI	NA	Cetica V.2017
1028	19	c.3876dupT	p.Asp1293X	DIIIS3	Nonsense	Haploinsufficiency	SMEI	NA	Cetica V.2017
1029	19	c.3878delA	p.Asp1293ValfsX7	DIIIS3	Frameshift	Haploinsufficiency	SMEI	Familial	Marini C.2007
1029	19	c.3878delA	p.Asp1293ValfsX7	DIIIS3	Frameshift	Haploinsufficiency	SMEI	Familial(Paternal,mosaic,EP),P=1/1	Depienne C.2009,2010
1030	IVS19	c.3879+1G>A		DIIIS3	Splice donor site	ND	SMEI	NA	Depienne C.2009
1030	IVS19	c.3879+1G>A		DIIIS3	Splice donor site	ND	SMEI	NA	Wang JW.2012
1031	IVS19	c.3879+1G>T		DIIIS3	Splice donor site	ND	SMEI	De novo	Sun H.2010
1031	IVS19	c.3879+1G>T		DIIIS3	Splice donor site	ND	SMEI	De novo	Zuberi SM.2011
1032	IVS19	c.3879+5G>A		DIIIS3	Splice donor site	ND	Ep and/or NDD	NA	Lindy AS.2018
1033	IVS19	c.3880-2A>C		DIIIS3	Splice acceptor site	ND	NA	De novo	L?fgren A.2010(unpublished)
1033	IVS19	c.3880-2A>C		DIIIS3	Splice acceptor site	ND	SMEI	De novo	Mahdieh N.2018
1034	IVS19	c.3880-1G>A		DIIIS3	Splice acceptor site	ND	SMEI	De novo	L?fgren A.2010(unpublished)
1034	IVS19	c.3880-1G>A		DIIIS3	Splice acceptor site	ND	SME	Familial(Paternal,mosaic,asympt)	Verbeek NE.2013
1035	IVS19	c.3880-1G>T		DIIIS3	Splice acceptor site	ND	SMEI	De novo	Depienne C.2009
1036	IVS19	c.3880-2A>G		DIIIS3	Splice acceptor site	ND	SMEI	NA	Xu X.2015
1037	20	c.3899C>G	p.Thr1300Arg	DIIIS3	Missense	P/O→P/﹢ (78)	SME	NA	Xu X.2014
1038	20	c.3899delC	p.Thr1300LysfsX19	DIIIS3	Frameshift	Haploinsufficiency	SMEI	NA	Ishii A.2017
1039	20	c.3905dupA	p.Cys1303MetfsX29	DIIIS3-S4	Frameshift	Haploinsufficiency	LGS	De novo	Allen AS.2013
1040	20	c.3918C>A	p.Tyr1306X	DIIIS3-S4	Nonsense	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1041	20	c.3924A>T	p.Glu1308Asp	DIIIS3-S4	Missense	P/﹣→P/﹣(45)	FS	Familial	Orrico A.2009
							SMEI	Familial(Paternal,asympt),P=1/2	Nicita F.2010
							SMEI	Familial(Maternal)	Zuberi SM.2011
							FS	NA	Maksemous N.2016
							FS	NA	Lal D.2016
1042	20	c.3925C>T	p.Leu1309Phe	DIIIS4	Missense	N→N (22)	GEFS+	Familial(Paternal,FS),P=2/2	Dimova PS.2010
1042	20	c.3925C>T	p.Leu1309Phe	DIIIS4	Missense	N→N (22)	GEFS+	NA	Epi4K consortium..2017
1043	20	c.3925_3934delins10	p.Leu1309SerfsX10	DIIIS4	Frameshift	Haploinsufficiency	SMEI	NA	Ishii A.2017
1044	20	c.3929delG	p.Gly1310GlufsX9	DIIIS4	Frameshift	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
1045	20	c.3931delG	p.Ala1311ProfsX8	DIIIS4	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
1046	20	c.3938A>T	p.Lys1313Ile	DIIIS4	Missense	P/﹢→N (102)	SME	NA	Lee HF.2014
1047	20	c.3946A>T	p.Arg1316Trp	DIIIS4	Missense	P/﹢→N (101)	SMEB	De novo	Lim BC.2011
1048	20	c.3946A>G	p.Arg1316Gly	DIIIS4	Missense	P/﹢→N (125)	SMEI	NA	Wang JW.2012
1049	20	c.3948G>T	p.Arg1316Ser	DIIIS4	Missense	P/﹢→P/O (110)	SMEI	De novo	Depienne C.2009
1050	20	c.3948G>C	p.Arg1316Ser	DIIIS4	Missense	P/﹢→P/O (110)	SMEI	Unknown	Kothur K.2018
1050	20	c.3948G>C	p.Arg1316Ser	DIIIS4	Missense	P/﹢→P/O (110)	SMEI	NA	Kothur K.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.