SCN1A mutation database!

SCN1A mutations list 20/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
951	18	c.3656G>A	p.Trp1219X	DIIIS1	Nonsense	Haploinsufficiency	SMEI	De novo	Depienne C.2009
952	18	c.3657G>A	p.Trp1219X	DIIIS1	Nonsense	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
952	18	c.3657G>A	p.Trp1219X	DIIIS1	Nonsense	Haploinsufficiency	NA	NA	L?fgren A.2010(unpublished)
953	18	c.3661G>A	p.Glu1221Lys	DIIIS1	Missense	P/﹣→P/﹢ (56)	SMEI	NA	Zuberi SM.2011
954	18	c.3661G>C	p.Glu1221Gln	DIIIS1	Missense	P/﹣→P/O (29)	SMEI	NA	Xu X.2015
955	18	c.3670dupA	p.Ile1224AsnfsX8	DIIIS1	Frameshift	Haploinsufficiency	Unclassified	NA	Zuberi SM.2011
956	18	c.3683T>G	p.Ile1228Ser	DIIIS1	Missense	N→P/O (142)	Ep and/or NDD	NA	Lindy AS.2018
957	18	c.3688C>T	p.Leu1230Phe	DIIIS1	Missense	N→N (22)	GEFS+	Familial(Maternal)	Zuberi SM.2011
957	18	c.3688C>T	p.Leu1230Phe	DIIIS1	Missense	N→N (22)	SMEI	NA	Zuberi SM.2011
958	18	c.3689T>C	p.Leu1230Pro	DIIIS1	Missense	N→N (98)	Pediatric refractory epilepsy	De novo	Liu J.2018
958	18	c.3689T>C	p.Leu1230Pro	DIIIS1	Missense	N→N (98)	SMEI	De novo	Liu J.2018
959	18	c.3690dupT	p.Ser1231fxS	DIIIS1	Nonsense	Haploinsufficiency	SMEI	NA	Parrini E.2017
960	18	c.3692G>C	p.Ser1231Thr	DIIIS1	Missense	P/O→P/O (58)	SMEI	De novo	Kearney JA.2006
961	18	c.3693T>A	p.Ser1231Arg	DIIIS1	Missense	P/O→P/﹢ (110)	SMEI	De novo	Fujiwara T.2003
962	18	c.3697G>C	p.Gly1233Arg	DIIIS1	Missense	N→P/﹢ (125)	SMEI	NA	Nabbout R.2003
963	18	c.3696delGins22	p.Leu1235fs	DIIIS1	Frameshift	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
964	18	c.3701delC	p.Ala1234ValfsX36	DIIIS1	Frameshift	Haploinsufficiency	SMEI	NA	Cetica V.2017
965	IVS18	c.3705+1G>A		DIIIS1	Splice donor site	ND	SMEI	De novo	Wallace RH.2003
965	IVS18	c.3705+1G>A		DIIIS1	Splice donor site	ND	SME	NA	Xu X.2014
966	IVS18	c.3705+1G>C		DIIIS1	Splice donor site	ND	SME	De novo	Gaily E.2013
967	IVS18	c.3705+1G>T		DIIIS1	Splice donor site	Del. partial exon 18 + ins. partial intron 18	SMEI	De novo	Nabbout R.2003
967	IVS18	c.3705+1G>T		DIIIS1	Splice donor site	Del. partial exon 18 + ins. partial intron 18	SMEI	De novo	Mancardi MM.2006
968	IVS18	c.3705+2T>A		DIIIS1	Splice donor site	ND	SMEI	De novo	Sun H.2010
968	IVS18	c.3705+2T>A		DIIIS1	Splice donor site	ND	SME	NA	Xu X.2014
969	IVS18	c.3705+5G>C		DIIIS1	Splice donor site	ND	SIGEI	De novo	Ebach K.2005
970	IVS18	c.3705+5G>A		DIIIS1	Splice donor site	ND	NA	NA	L?fgren A.2010(unpublished)
970	IVS18	c.3705+5G>A		DIIIS1	Splice donor site	ND	SMEI	NA	Martin P.2010
971	IVS18	c.3706-3T>G		DIIIS1	Splice acceptor site	ND	SMEI	De novo	Depienne C.2009
972	IVS18	c.3706-1G>A		DIIIS1	Splice acceptor site	ND	SMEI	De novo	Mancardi MM.2006
973	IVS18	c.3706-2A>G		DIIIS1	Splice acceptor site	ND	SME	NA	Singh NA.2009
974	19	c.3706G>C	p.Ala1236Pro	DIIIS1	Missense	N→N (27)	SME	NA	Xu X.2014
975	19	c.3714A>C	p.Glu1238Asp	DIIIS1	Missense	P/﹣→P/﹣(45)	SMEI	NA	Harkin LA.2007
976	19	c.3715G>T	p.Asp1239Tyr	DIIIS1-S2	Missense	P/﹣→P/O (160)	SMEI	De novo	Depienne C.2009
976	19	c.3715G>T	p.Asp1239Tyr	DIIIS1-S2	Missense	P/﹣→P/O (160)	SME	De novo	Verbeek NE.2013
977	19	c.3716A>G	p.Asp1239Gly	DIIIS1-S2	Missense	P/﹣→N (94)	SMEI	De novo	Depienne C.2009
978	19	c.3718delA	p.Ile1240TyrfsX30	DIIIS1-S2	Frameshift	Haploinsufficiency	SMEI	NA	Wang JW.2012
979	19	c.3721T>C	p.Tyr1241His	DIIIS1-S2	Missense	P/O→P/﹢(83)	SMEI	NA	Ishii A.2017
980	19	c.3724_3725dupAT	p.Asp1243LeufsX28	DIIIS1-S2	Frameshift	Haploinsufficiency	SMEI	De novo	Marini C.2007
							IE	NA	Wang JW.2012
							Ep and/or NDD	NA	Lindy AS.2018
981	19	c.3726_3727insAT	p.Tyr1241Argfsx30	DIIIS1-S2	Frameshift	Haploinsufficiency	SMEI	De novo	Sun H.2010
982	19	c.3730C>T	p.Gln1244X	DIIIS1-S2	Nonsense	Haploinsufficiency	SME	NA	Xu X.2014
982	19	c.3730C>T	p.Gln1244X	DIIIS1-S2	Nonsense	Haploinsufficiency	SMEI	NA	Wei CM.2018
983	19	c.3733C>T	p.Arg1245X	DIIIS1-S2	Nonsense	Haploinsufficiency;LOF	SMEI	De novo	Nabbout R.2003
							SMEI	De novo	Harkin LA.2007
							SMEI	1De novo;1NA	Depienne C.2009
							SMEI	1De novo;1NA	Zuberi SM.2011
							SMEI	NA	Arlier Z.2010
							SME	NA	Craig AK.2012
							SME	NA	Moehring J.2013
							SME	NA	Xu X.2014
							Epilepsy and/or NDD	NA	Lindy AS.2018
984	19	c.3734G>A	p.Arg1245Gln	DIIIS1-S2	Missense	P/﹢→P/O(43)	SMEI	De novo	Mancardi MM.2006
							SME+Autism	NA	Craig AK.2012
							SMEI	NA	Cetica V.2017
985	19	c.3737dupA	p.Thr1247LysfsX4	DIIIS1-S2	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
986	19	c.3740_3751del12	p.Thr1247_Thr1250del	DIIIS1-S2	In-frame deletion	ND	SMEI	De novo	L?fgren A.2010(unpublished)
987	19	c.3748G>C	p.Lys1249Asn	DIIIS1-S2	Missense	P/﹢→P/O (94)	GEFS+	Familial	Orrico A.2009
988	19	c.3749C>T	p.Thr1250Met	DIIIS1-S2	Missense	P/O→N (81)	GEFS+	Familial	Orrico A.2009
							SME	NA	Catarino CB.2011
							Rolandic epilepsy	Familial,P=2/2,Affected generations:2	Lal D.2016
989	19	c.3757G>T	p.Glu1253X	DIIIS2	Nonsense	Haploinsufficiency	SME	NA	Xu X.2014
990	19	c.3760delT	p.Tyr1254MetfsX16	DIIIS2	Frameshift	Haploinsufficiency	SMEI	NA	Cetica V.2017
991	19	c.3761A>G	p.Tyr1254Cys	DIIIS2	Missense	P/O→N (194)	IE	NA	Wang JW.2012
992	19	c.3764C>A	p.Ala1255Asp	DIIIS2	Missense	N→P/﹣(126)	SMEI	De novo	Depienne C.2009
993	19	c.3773_3775del3ins8	p.Val1258_Phe1259delinsAsp,Ser,LeufsX14	DIIIS2	Frameshift	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
994	19	c.3774delT	p.Val1257fsX13	DIIIS2	Frameshift	Haploinsufficiency	SMEI	De novo	Zucca C.2008
995	19	c.3776T>G	p.Phe1259Cys	DIIIS2	Missense	N→N (205)	SME	NA	Moehring J.2013
996	19	c.3776dupT	p.Thr1260HisfsX34	DIIIS2	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
997	19	c.3776T>C	p.Phe1259Ser	DIIIS2	Missense	N→P/O (155)	Ep and/or NDD	NA	Lindy AS.2018
998	19	c.3778A>C	p.Thr1260Pro	DIIIS2	Missense	P/O→N (38)	SMEI	De novo	Sun H.2010
998	19	c.3778A>C	p.Thr1260Pro	DIIIS2	Missense	P/O→N (38)	Epilepsy and/or NDD	NA	Lindy AS.2018
999	19	c.3783C>A	p.Tyr1261X	DIIIS2	Nonsense	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1000	19	c.3789C>G	p.Phe1263Leu	DIIIS2	Missense	N→N (22)	SMEB	De novo	Fujiwara T.2003

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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.