SCN1A mutation database!

SCN1A mutations list 24/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1151	21	c.4216G>A	p.Ala1406Thr	DIIIS5-S6	Missense	N→P/O(58)	SMEI	Familial(Paternal,IGE),P=2/2	Lim BC.2011
1152	21	c.4216dupG	p.Ala1406GlyfsX11	DIIIS5-S6	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1153	21	c.4219C>T	p.Arg1407X	DIIIS5-S6	Nonsense	Haploinsufficiency;LOF	SMEI	De novo	Sugawara T.2002
							SMEI	NA	Fukuma G.2004
							SMEI	De novo	Harkin LA.2007
							SMEI	NA	Wang JW.2012
1154	21	c.4223G>A	p.Trp1408X	DIIIS5-S6	Nonsense	Haploinsufficiency	SMEI	NA	Fujiwara T.2003
1154	21	c.4223G>A	p.Trp1408X	DIIIS5-S6	Nonsense	Haploinsufficiency	SMEI	De novo	Sun H.2008a
1155	21	c.4228A>T	p.Asn1410Tyr	DIIIS5-S6	Missense	P/O→P/O(143)	SMEB	De novo	L?fgren A.2010(unpublished)
1156	21	c.4229delA	p.Asn1410MetfsX2	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Kwong AK.2012
1157	21	c.4240A>G	p.Asn1414Asp	DIIIS5-S6	Missense	P/O→P/﹣(23)	GEFS+	Familial(Paternal)	Zuberi SM.2011
1158	21	c.4240A>T	p.Asn1414Tyr	DIIIS5-S6	Missense	P/O→P/O(143)	SMEI	De novo	Marini C.2007
1159	23	c.4243T>A	p.Phe1415Ile	DIIIS5-S6	Missense	N→N (21)	SMEI	NA	Jiao J.2013
1160	21	c.4246G>C	p.Asp1416His	DIIIS5-S6	Missense	P/﹣→P/﹢ (81)	NA	De novo	L?fgren A.2010(unpublished)
1160	21	c.4246G>C	p.Asp1416His	DIIIS5-S6	Missense	P/﹣→P/﹢ (81)	SME	De novo	Mulley JC.2013
1161	21	c.4245delT	p.Phe1415LeufsX4	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Ishii A.2017
1162	21	c.4244_4245delTT	p.Phe1415X	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1162	21	c.4244_4245delTT	p.Phe1415X	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Sun H.2010
1163	21	c.4246G>T	p.Asp1416Tyr	DIIIS5-S6	Missense	P/﹣→P/O (160)	Rett syndrome	De novo	Henriksen MW.2018
1164	21	c.4247A>G	p.Asp1416Gly	DIIIS5-S6	Missense	P/﹣→N (94)	SMEI	De novo	Depienne C.2009
1165	21	c.4250A>G	p.Asn1417Ser	DIIIS5-S6	Missense	P/O→P/O(46)	SMEI	De novo	Zuberi SM.2011
1166	21	c.4253T>A	p.Val1418Glu	DIIIS5-S6	Missense	N→P/﹣(121)	SMEI	De novo	L?fgren A.2010(unpublished)
1167	21	c.4253T>G	p.Val1418Gly	DIIIS5-S6	Missense	N→N (109)	SMEI	NA	Wang JW.2012
1168	21	c.4254delA	p.Gly1419AspfsX19	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1169	21	c.4255G>T	p.Gly1419X	DIIIS5-S6	Nonsense	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1170	21	c.4261G>T	p.Gly1421Trp	DIIIS5-S6	Missense	N→N (184)	SMEI	NA	Cho MJ.2018
1171	21	c.4262_4275del14	p.Gly1421AlafsX18	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	de Lange IM.2018
1172	21	c.4265A>G	p.Tyr1422Cys	DIIIS5-S6	Missense	P/O→N (194)	SMEI	De novo	Mancardi MM.2006
1173	21	c.4266T>A	p.Tyr1422X	DIIIS5-S6	Nonsense	Haploinsufficiency	IE	NA	Wang JW.2012
1173	21	c.4266T>A	p.Tyr1422X	DIIIS5-S6	Nonsense	Haploinsufficiency	IE	NA	Zhu X.2017
1174	21	c.4267C>T	p.Leu1423Phe	DIIIS5-S6	Missense	N→N (22)	SMEI	Familial(Maternal)	Zuberi SM.2011
1175	21	c.4277T>G	p.Leu1426Arg	DIIIS5-S6	Missense	N→P/﹢ (102)	SMEI	De novo	Mancardi MM.2006
1176	21	c.4277T>A	p.Leu1426His	DIIIS5-S6	Missense	N→P/﹢ (99)	SMEI	NA	Gontika MP.2017
1177	21	c.4278_4282delCAAGT	p.Gln1427CysfsX16	DIIIS5-S6	Frameshift	Haploinsufficiency	SME	NA	Verbeek NE.2013
1178	21	c.4279C>T	p.Gln1427X	DIIIS5-S6	Nonsense	Haploinsufficiency	SMEB-SW	De novo	Harkin LA.2007
1179	21	c.4280A>C	p.Gln1427Pro	DIIIS5-S6	Missense	P/O→N (76)	SMEI	De novo	Wang JW.2012
1180	21	c.4283T>C	p.Val1428Ala	DIIIS5-S6	Missense	N→N (64)	PEFS+(GEFS+)	NA	Sugawara T.2002
							FS	NA	Ito M.2002
							FS+, TLE (right)	NA	Perucca P.2017
1181	IVS21	c.4284+1G>T		DIIIS5-S6	Splice donor site	ND	SMEI	De novo	Zuberi SM.2011
1182	IVS21	c.4284+1G>A		DIIIS5-S6	Splice donor site	ND	SMEI	De novo	Kwong AK.2012
					Splice donor site		SMEI	NA	Wang JW.2012
					Splice donor site		SME	De novo	Djemie T.2016
1183	IVS21	c.4284+2T>C		DIIIS5-S6	Splice donor site	Del. exon 21	SMEI	NA	Wang JW.2012
1184	IVS21	c.4284+4A>T		DIIIS5-S6	Splice donor site	ND	SMEB	De novo	Lim BC.2011
1185	IVS21	c.4284+1G>C		DIIIS5-S6	Splice donor site	ND	Rett syndrome	De novo	Henriksen MW.2018
1186	IVS21	c.4285-4A>G		DIIIS5-S6	Splice acceptor site	ND	NA	De novo	L?fgren A.2010(unpublished)
1186	IVS21	c.4285-4A>G		DIIIS5-S6	Splice acceptor site	ND	SMEI	De novo	Mahdieh N.2018
1187	IVS21	c.4285-18_4291del25		DIIIS5-S6	Splice acceptor site	ND	SMEI	NA	Depienne C.2009
1188	IVS21	c.4285-2A>G		DIIIS5-S6	Splice acceptor site	ND	SMEI	De novo	Depienne C.2009
1189	IVS21	c.4285-3T>G		DIIIS5-S6	Splice acceptor site	ND	IE	NA	Wang JW.2012
1190	IVS21	c.4285-1G>A		DIIIS5-S6	Splice donor site	ND	SME	NA	Lee HF.2014
1191	22	c.4285delGCC	p.Ala1429del	DIIIS5-S6	In-frame deletion	ND	SMEI	De novo	Zuberi SM.2011
1192	22	c.4285G>T	p.Ala1429Ser	DIIIS5-S6	Missense	N→P/O(99)	ADNFLE	Familial(Paternal,ADNFLE)	Sone D.2012
1193	21	c.4285G>A	p.Ala1429Thr	DIIIS5-S6	Missense	N→P/O (58)	Ep and/or NDD	NA	Lindy AS.2018
1194	IVS21	c.4285-10_4287delTTCTTAATAGGCC		DIIIS5-S6	Splice acceptor site	ND	Ep and/or NDD	NA	Lindy AS.2018
1195	22	c.4286C>A	p.Ala1429Asp	DIIIS5-S6	Missense	N→P/﹣(126)	IE	NA	Wang JW.2012
1196	22	c.4286_4290delCCACAinsATGTCC	p.Ala1429AspfsX15	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEB	NA	Ohmori I.2002
1197	22	c.4286C>T	p.Ala1429Val	DIIIS5-S6	Missense	N→N (64)	GEFS+	De novo	Myers KA.2017
1198	22	c.4291T>A	p.Phe1431Ile	DIIIS5-S6	Missense	N→N (21)	SMEI	NA	Depienne C.2009
1199	22	c.4294A>G	p.Lys1432Glu	DIIIS5-S6	Missense	P/﹢→P/﹣(56)	SMEI	De novo	L?fgren A.2010(unpublished)
1200	22	c.4295A>G	p.Lys1432Arg	DIIIS5-S6	Missense	P/﹢→P/﹢ (26)	SME	NA	Lee HF.2014

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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.