SCN1A mutation database!

SCN1A mutations list 25/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1201	22	c.4296delA	p.Lys1432LysfsX6	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Lim BC.2011
1202	22	c.4297G>A	p.Gly1433Arg	DIIIS5-S6	Missense	N→P/﹢ (125)	SMEI	De novo	Nicita F.2010
1203	22	c.4297G>C	p.Gly1433Arg	DIIIS5-S6	Missense	N→P/﹢ (125)	Ep and/or NDD	NA	Lindy AS.2018
1204	22	c.4298G>T	p.Gly1433Val	DIIIS5-S6	Missense	N→N (109)	SMEI	Familial(Paternal)	Zuberi SM.2011
1205	22	c.4298G>A	p.Gly1433Glu	DIIIS5-S6	Missense	N→P/﹣(98)	SMEI	De novo	Sun H.2008a
							SME	De novo	Verbeek NE.2013
							SMEI	NA	Xu X.2014
1206	22	c.4300T>C	p.Trp1434Arg	DIIIS5-S6	Missense	N→P/﹢ (101)	SMEI	NA	Ohmori I.2002
							SMEI	De novo	Claes L.2003
							SME	De novo	Gaily E.2013
1207	22	c.4301G>A	p.Trp1434X	DIIIS5-S6	Nonsense	Haploinsufficiency	SMEI	De novo	Zucca C.2008
1208	22	c.4302G>A	p.Trp1434X	DIIIS5-S6	Nonsense	Haploinsufficiency	SMEI	NA	Xu X.2015
1209	22	c.4304T>A	p.Met1435Lys	DIIIS5-S6	Missense	N→P/﹢ (95)	Ep and/or NDD	NA	Lindy AS.2018
1210	22	c.4304T>G	p.Met1435Arg	DIIIS5-S6	Missense	N→P/﹢(91)	Ep and/or NDD	NA	Lindy AS.2018
1211	IVS21	c.4306-1G>A		DIIIS5-S6	Splice acceptor site	ND	SMEI	NA	Ko A.2018
1212	22	c.4311A>G	p.Ile1437Met	DIIIS5-S6	Missense	N→N (10)	SMEI	De novo	Depienne C.2009
1213	22	c.4313T>C	p.Met1438Thr	DIIIS5-S6	Missense	N→P/O (81)	SMEI	De novo	Do TT.2017
1213	22	c.4313T>C	p.Met1438Thr	DIIIS5-S6	Missense	N→P/O (81)	Ep and/or NDD	NA	Lindy AS.2018
1214	22	c.4314G>A	p.Met1438Ile	DIIIS5-S6	Missense	N→N (10)	GEFS+	Familial	L?fgren A.2010(unpublished)
1215	22	c.4316_4317dupAT	p.Ala1440MetfsX37	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Jiang P.2016
1216	22	c.4318delG	p.Ala1440GlnfsX36	DIIIS5-S6	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1217	23	c.4319C>A	p.Ala1440Glu	DIIIS5-S6	Missense	N→P/﹣(107)	SME	De novo	Gaily E.2013
1218	22	c.4319C>G	p.Ala1440Gly	DIIIS5-S6	Missense	N→N (60)	JME + FS	NA	Lee CG.2018
1219	22	c.4319C>T	p.Ala1440Val	DIIIS5-S6	Missense	N→N (64)	ASD	NA	D'Gama AM.2015
1220	22	c.4321G>A	p.Ala1441Thr	DIIIS5-S6	Missense	N→P/O(58)	SME	NA	Lee HF.2014
1221	22	c.4321G>C	p.Ala1441Pro	DIIIS5-S6	Missense	N→N (27)	SMEI	De novo	Harkin LA.2007
1221	22	c.4321G>C	p.Ala1441Pro	DIIIS5-S6	Missense	N→N (27)	SMEI	NA	Mulley JC.2013
1222	22	c.4331_4334delCCAG	p.Ser1444X	DIIIS5-S6	Nonsense	Haploinsufficiency	Pediatric refractory epilepsy	De novo	Liu J.2018
1223	IVS22	c.4338+1G>A		DIIIS5-S6	Splice donor site	ND	SMEI	De novo	Claes L.2001,2003
1224	IVS22	c.4338+1G>T		DIIIS5-S6	Splice donor site	ND	SMEI	NA	Cetica V.2017
1225	IVS22	c.4338+4A>C		DIIIS5-S6	Splice donor site	ND	SMEI	NA	Xu X.2015
1226	IVS22	c.4339-14T>G		DIIIS5-S6	Splice acceptor site	ND	SMEI	De novo	Wallace RH.2003
1227	IVS22	c.4339-12C>A		DIIIS5-S6	Splice acceptor site	ND	SMEI	De novo	Zuberi SM.2011
1227	IVS22	c.4339-12C>A		DIIIS5-S6	Splice acceptor site	ND	Secondary epilepsy	De novo	Tang S.2011
1228	IVS22	c.4339-1G>T		DIIIS5-S6	Splice acceptor site	ND	SMEI	De novo	Nabbout R.2003
1229	IVS22	c.4339-1G>A		DIIIS5-S6	Splice acceptor site	ND	SMEI	NA	Yang X.2017
1230	23	c.4348C>A	p.Gln1450Lys	DIIIS5-S6	Missense	P/O→P/﹢ (53)	SMEI	De novo	Zuberi SM.2011
1231	23	c.4349A>C	p.Gln1450Pro	DIIIS5-S6	Missense	P/O→N (76)	GEFS+	NA	Chou CI.2010
							SME	De novo	Lin W.2013
							SME	NA	Lee HF.2014
1232	23	c.4349A>G	p.Gln1450Arg	DIIIS5-S6	Missense	P/O→P/﹢ (43)	SMEB	De novo	Ohmori I.2002
1233	23	c.4351C>A	p.Pro1451Thr	DIIIS5-S6	Missense	N→P/O(38)	SME	Familial(Paternal, mosaic, asympt),P=1/1	Huang AY.2014
1234	23	c.4351C>G	p.Pro1451Ala	DIIIS5-S6	Missense	N→N (27)	SMEB	De novo	L?fgren A.2010(unpublished)
1235	23	c.4351C>T	p.Pro1451Ser	DIIIS5-S6	Missense	N→P/O(74)	SMEI	1De novo;1NA	Zuberi SM.2011
1236	23	c.4352C>T	p.Pro1451Leu	DIIIS5-S6	Missense	N→N (98)	SMEI	De novo	Mancardi MM.2006
1237	23	c.4352_4356del	p.Tyr1451CysfsX22	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Liu J.2018
1238	23	c.4352_4357delACTTTG		DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Esterhuizen AI.2018
1239	23	c.4358A>G	p.Tyr1453Cys	DIIIS5-S6	Missense	P/O→N (194)	SMEB	NA	Wang JW.2012
1240	23	c.4359T>G	p.Tyr1453X	DIIIS5-S6	Nonsense	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1241	23	c.4360G>A	p.Glu1454Lys	DIIIS5-S6	Missense	P/﹣→P/﹢(56)	SMEI	De novo	Zuberi SM.2011
1241	23	c.4360G>A	p.Glu1454Lys	DIIIS5-S6	Missense	P/﹣→P/﹢(56)	Epilepsy and/or NDD	NA	Lindy AS.2018
1242	23	c.4363_4366delGAAA	p.Glu1455ValfsX20	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1243	23	c.4370T>G	p.Leu1457Arg	DIIIS6	Missense	N→P/﹢ (102)	ASD	NA	Wang T.2016
1244	23	c.4371G>C	p.Leu1457Leu	DIIIS6	Synonymous	ND	ADNFLE	Familial(Paternal,ADNFLE)	Sone D.2012
1245	23	c.4381C>A	p.Leu1461Ile	DIIIS6	Missense	N→N (5)	SMEI	De novo	Nabbout R.2003
1246	23	c.4384T>C	p.Tyr1462His	DIIIS6	Missense	P/O→P/﹢(83)	SMEI	De novo	Zuberi SM.2011
							SMEB	De novo	Zuberi SM.2011
							SMEB	De novo	Wang JW.2012
							IE	NA	Wang JW.2012
1247	23	c.4384dupT	p.Tyr1462LeufsX24	DIIIS6	Frameshift	Haploinsufficiency	Ep (early-onset)	De novo	Stanek D.2018
1248	23	c.4385A>G	p.Tyr1462Cys	DIIIS6	Missense	P/O→N (194)	SMEI	NA	Zucca C.2008
1249	23	c.4385_4389delACTTT	p.Tyr1462CysfsX22	DIIIS6	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1250	23	c.4387T>C	p.Phe1463Leu	DIIIS6	Missense	N→N (22)	SMEI	De novo	Reyes IS.2011

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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.