SCN1A mutation database!

SCN1A mutations list 22/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1051	20	c.3953T>G	p.Leu1318Arg	DIIIS4	Missense	N→P/﹢ (102)	SMEI	De novo	Mak CM.2011
1052	20	c.3955delA	p.Arg1319GlufsX3	DIIIS4	Frameshift	Haploinsufficiency	GEFS+	De novo	L?fgren A.2010(unpublished)
1053	20	c.3955A>T	p.Arg1319X	DIIIS4	Nonsense	Haploinsufficiency	SMEI	NA	Cetica V.2017
1054	20	c.3957_3958delAG	p.Arg1319SerfsX12	DIIIS4	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1055	20	c.3959C>T	p.Ala1320Val	DIIIS4	Missense	N→N (64)	SMEI	De novo	Zuberi SM.2011
1056	20	c.3965G>T	p.Arg1322Ile	DIIIS4	Missense	P/﹢→N (97)	SME	NA	Lee HF.2014
1057	20	c.3965G>C	p.Arg1322Thr	DIIIS4	Missense	N→P/﹢(112)	Rett-like syndrome	NA	Lucariello M.2016
1058	20	c.3966_3976delACCTCTAAGAG	p.Arg1322SerfsX6	DIIIS4	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1059	20	c.3967C>T	p.Pro1323Ser	DIIIS4	Missense	N→P/O(74)	GEFS+	Familial(Paternal)	L?fgren A.2010(unpublished)
1060	20	c.3968delC	p.Pro1323LeufsX2	DIIIS4	Frameshift	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
1061	20	c.3968C>G	p.Pro1323Arg	DIIIS4	Missense	N→P/﹢ (103)	PEFS+	De novo	Lim BC.2011
1062	20	c.3970_3971dupCT	p.Leu1324fsX1	DIIIS4	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
1063	20	c.3972insT	p.Leu1324fsX8	DIIIS4	Frameshift	Haploinsufficiency	SMEI	NA	Chou CI.2010
1063	20	c.3972insT	p.Leu1324fsX8	DIIIS4	Frameshift	Haploinsufficiency	SME	De novo	Lin W.2013
1064	20	c.3974G>C	p.Arg1325Thr	DIIIS4	Missense	P/﹢→P/O (71)	IE	De novo	Wang JW.2012
1065	20	c.3976G>C	p.Ala1326Pro	DIIIS4	Missense	N→N (27)	SMEI	De novo	Wallace RH.2003
							SMEI	NA	Zuberi SM.2011
							SME	NA	Rodda JM.2012
1066	20	c.3977C>A	p.Ala1326Asp	DIIIS4	Missense	N→P/﹣(126)	SMEB-MA	De novo	Singh NA.2009
1066	20	c.3977C>A	p.Ala1326Asp	DIIIS4	Missense	N→P/﹣(126)	Unclassified	De novo	Zuberi SM.2011
1067	20	c.3977C>T	p.Ala1326Val	DIIIS4	Missense	N→N (64)	Epilepsy-aphasia	De novo	Carvill GL.2013
1068	20	c.3982T>C	p.Ser1328Pro	DIIIS4	Missense	P/O→N (74)	SMEI	NA	Depienne C.2009
							IE	NA	Wang JW.2012
							DS	NA	Xiong HY.2015
1069	20	c.3985C>T	p.Arg1329X	DIIIS4	Nonsense	Haploinsufficiency	SMEI	De novo	Depienne C.2009
							SMEI	Familial(Maternal,mosaic,migraine),P=2/2	Selmer KK.2009a
							Unclassified	NA	Zuberi SM.2011
							Epilepsy and/or NDD	NA	Lindy AS.2018
1070	20	c.3990delT	p.Phe1330LeufsX3	DIIIS4	Frameshift	Haploinsufficiency	SMEI	NA	Lemke JR.2012
1071	20	c.3995G>A	p.Gly1332Glu	DIIIS4	Missense	N→P/﹣(98)	SMEI	NA	Ishii A.2017
1072	20	c.3997_4002delATGAGG	p.Met1333_Arg1334del	DIIIS4	Nonsense	ND	SMEI	De novo	Mancardi MM.2006
1073	20	c.3998T>C	p.Met1333Thr	DIIIS4-S5	Missense	N→P/O(81)	GEFS+	NA	Cantar
1074	20	c.4001G>T	p.Arg1334Met	DIIIS4	Missense	P/﹢→N (91)	Ep	NA	Coll M.2017
1075	IVS20	c.4002+1G>A		DIIIS4	Splice donor site	ND	SMEB	NA	Zuberi SM.2011
1075	IVS20	c.4002+1G>A		DIIIS4	Splice donor site	ND	SME	De novo	Djemie T.2016
1076	IVS20	c.4002+1G>T		DIIIS4-S5	Splice donor site	ND	SMEI	De novo	Depienne C.2009
1077	IVS20	c.4002+1delG		DIIIS4-S5	Splice donor site	ND	SMEI	De novo	Depienne C.2009
1078	IVS20	c.4002+2T>C		DIIIS4-S5	Splice donor site	ND	SMEI	De novo	Zuberi SM.2011
1079	21	c.4003G>A	p.Val1335Met	DIIIS4-S5	Missense	N→N (21)	SMEI	NA	Zucca C.2008
1079	21	c.4003G>A	p.Val1335Met	DIIIS4-S5	Missense	N→N (21)	SMEI	De novo	Sun H.2008a
1080	IVS20	c.4003-1G>A		DIIIS4-S5	Splice acceptor site	ND	Ep and/or NDD	NA	Lindy AS.2018
1081	21	c.4010_4011dupTG	p.Asn1338fsX1338	DIIIS4-S5	Frameshift	Haploinsufficiency	SMEI	De novo	Wang JW.2012
1082	21	c.4016C>T	p.Ala1339Val	DIIIS4-S5	Missense	N→N (64)	SMEI	NA	Okumura A.2012
							SMEI	De novo	Wang JW.2012
							SME	NA	Xu X.2014
1083	21	c.4016C>A	p.Ala1339Asp	DIIIS4-S5	Missense	N→P/﹣(126)	Ep and/or NDD	NA	Lindy AS.2018
1084	21	c.4016T>G	p.Val1339Gly	DIIIS4-S5	Missense	N→N (109)	SMEI	De novo	Esterhuizen AI.2018
1085	21	c.4018_4019delCT	p.Leu1340PhefsX38	DIIIS4-S5	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1086	21	c.4021delC	p.Leu1341fsX8	DIIIS4-S5	Frameshift	Haploinsufficiency	SME	NA	Sanchez-Carpintero R.2013
1087	21	c.4022_4023delTA	p.Leu1341TrpfsX37	DIIIS4-S5	Frameshift	Haploinsufficiency	SMEI	NA	Depienne C.2009
1088	21	c.4024G>A	p.Gly1342Arg	DIIIS4-S5	Missense	N→P/﹢ (125)	NA	NA	L?fgren A.2010(unpublished)
1089	21	c.4027G>C	p.Ala1343Pro	DIIIS4-S5	Missense	N→N (27)	Ep and/or NDD	NA	Lindy AS.2018
1090	21	c.4030delA	p.Ile1344PhefsX5	DIIIS4-S5	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1091	21	c.4032T>G	p.Ile1344Met	DIIIS4-S5	Missense	N→N (10)	SMEI	NA	Wang JW.2012
1092	21	c.4033C>T	p.Pro1345Ser	DIIIS4-S5	Missense	N→P/O (74)	EE	De novo	Carvill GL.2013
1093	21	c.4034C>T	p.Pro1345Leu	DIIIS4-S5	Missense	N→N (98)	MMPSI	De novo	Trump N.2016
1094	21	c.4040T>C	p.Ile1347Thr	DIIIS4-S5	Missense	N→P/O (89)	EE	De novo	de Kovel CG.2016
1095	21	c.4044G>A	p.Met1348Ile	DIIIS4-S5	Missense	N→N (10)	SMEI	NA	Xu X.2015
1096	21	c.4049T>G	p.Val1350Gly	DIIIS4-S5	Missense	N→N (109)	SMEI	De novo	Zuberi SM.2011
1097	21	c.4049_4050delTG	p.Val1350AlafsX28	DIIIS4-S5	Frameshift	Haploinsufficiency	SMEI	De novo	Wang JW.2012
1098	21	c.4055T>C	p.Leu1352Pro	DIIIS5	Missense	N→N (98)	SMEI	NA	Xu X.2015
1099	21	c.4057G>C	p.Val1353Leu	DIIIS5	Missense	N→N (32); LOF	PEFS+	Familial(Maternal, EP),P=8/9	Wallace RH.2001
1099	21	c.4057G>C	p.Val1353Leu	DIIIS5	Missense	N→N (32); LOF	GEFS+	NA	Bennett CA.2017
1100	21	c.4060T>C	p.Cys1354Arg	DIIIS5	Missense	N→P/﹢ (180)	Ep and/or NDD	NA	Lindy AS.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.