SCN1A mutation database!

SCN1A mutations list 26/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1251	23	c.4388T>C	p.Phe1463Ser	DIIIS6	Missense	N→P/O(155)	SMEI	De novo	Nabbout R.2003
1252	23	c.4397T>C	p.Phe1466Ser	DIIIS6	Missense	N→P/O (155)	Ep and/or NDD	NA	Lindy AS.2018
1253	23	c.4399A>C	p.Ile1467Leu	DIIIS6	Missense	N→N (5)	SMEI	NA	Cetica V.2017
1254	23	c.4408G>T	p.Gly1470Trp	DIIIS6	Missense	N→N (184)	SMEI	De novo	Marini C.2007
1255	23	c.4412C>T	p.Ser1471Phe	DIIIS6	Missense	P/O→N (155)	SMEI	NA	Xu X.2015
1256	23	c.4415T>C	p.Phe1472Ser	DIIIS6	Missense	N→P/O(155)	SMEB	De novo	Wang JW.2012
1257	23	c.4417_4419delTTC	p.Phe1473del	DIIIS6	In-frame deletion	ND	SMEI	De novo	Depienne C.2009
1258	23	c.4424T>C	p.Leu1475Ser	DIIIS6	Missense	N→P/O(145)	SMEI	De novo	Mancardi MM.2006
1259	23	c.4428C>A	p.Asn1476Lys	DIIIS6	Missense	P/O→P/﹢(94)	SMEB	De novo	Zuberi SM.2011
1260	23	c.4433T>G	p.Phe1478Cys	DIIIS6	Missense	N→N (205)	Ep and/or NDD	NA	Lindy AS.2018
1261	23	c.4438G>T	p.Gly1480Cys	DIIIS6	Missense	N→N (159)	Ep and/or NDD	NA	Lindy AS.2018
1262	23	c.4439G>T	p.Gly1480Val	DIIIS6	Missense	N→N (109)	MAE(FS)	De novo	Harkin LA.2007
1263	23	c.4446_4448delCAT	p.Ile1483del	DIIIS6	In-frame deletion	ND	SMEI	De novo	Depienne C.2009
1264	23	c.4449A>G	p.Ile1483Met	DIIIS6	Missense	N→N (10)	Unclassified	De novo	Zuberi SM.2011
1265	23	c.4448_4449dupTA	p.Asp1484X	DIII-DIV	Frameshift	Haploinsufficiency	SMEI	NA	L?fgren A.2010(unpublished)
1265	23	c.4448_4449dupTA	p.Asp1484X	DIII-DIV	Frameshift	Haploinsufficiency	SMEI	NA	Ozmen M.2011
1266	23	c.4450_4453delGATA	p.Asp1484IlefsX16	DIII-DIV	Frameshift	Haploinsufficiency	IE	De novo	Wang JW.2012
1267	23	c.4451A>G	p.Asp1484Gly	DIII-DIV	Missense	P/﹣→N (94)	SMEB	NA	Depienne C.2009
1268	23	c.4453A>G	p.Asn1485Asp	DIII-DIV	Missense	P/O→P/﹣(23)	SME	De novo	Carvill GL.2013
1269	23	c.4453A>T	p.Asn1485Tyr	DIII-DIV	Missense	P/O→P/O(143)	SMEI	NA	Wang JW.2012
1270	23	c.4465C>A	p.Gln1489Lys	DIII-DIV	Missense	P/O→P/﹢(53); pLOF	FHM	Familial(Maternal,FHM),p=13/13	Dichgans M.2005
1271	23	c.4467G>C	p.Gln1489His	DIII-DIV	Missense	P/O→P/﹢(24)	FHM + ERDB	Familial(Maternal,FHM), p=5/5	Vahedi K. 2009
1271	23	c.4467G>C	p.Gln1489His	DIII-DIV	Missense	P/O→P/﹢(24)	SMEB	De novo	L?fgren A.2010(unpublished)
1272	23	c.4471A>T	p.Lys1491X	DIII-DIV	Nonsense	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
1272	23	c.4471A>T	p.Lys1491X	DIII-DIV	Nonsense	Haploinsufficiency	SMEI	NA	Wang JW.2012
1273	23	c.4472dupA	p.Lys1492GlufsX18	DIII-DIV	Frameshift	Haploinsufficiency	SMEI	NA	Ishii A.2017
1274	23	c.4476G>A		DIII-DIV	Splice donor site	ND	SMEI	De novo	Sun H.2010
1275	IVS23	c.4476+1A>G		DIII-DIV	Splice donor site	ND	SMEI	2NA	Zuberi SM.2011
							SMEI	De novo	Wang JW.2012
							Epilepsy and/or NDD	NA	Lindy AS.2018
1276	IVS23	c.4476+6T>C		DIII-DIV	Splice donor site	ND	NA	De novo	L?fgren A.2010(unpublished)
1276	IVS23	c.4476+6T>C		DIII-DIV	Splice donor site	ND	SMEI	NA	Mahdieh N.2018
1277	23	c.4476G>T	p.Lys1492Asn	DIII-DIV	Missense	P/﹢→P/O (94)	SMEI	De novo	Yang X.2017
1278	IVS23	c.4476+1A>T		DIII-DIV	Splice donor site	ND	Ep and/or NDD	NA	Lindy AS.2018
1279	IVS23	c.4476+5G>A		DIII-DIV	Splice donor site	ND	SMEI	NA	Ishii A.2017
1280	IVS23	c.4477-2A>G		DIII-DIV	Splice acceptor site	ND	EFS+	NA	Cantar
1281	24	c.4484_4486 delinsACATA	p.Gly1495Aspfs7	DIII-DIV	Frameshift	Haploinsufficiency	SMEI	NA	Haginoya K.2018
1282	24	c.4484delG	p.Gly1495ValfsX6	DIII-DIV	Frameshift	Haploinsufficiency	SMEI	De novo	Yang X.2017
1283	24	c.4486delG	p.Gln1496LysfsX5	DIII-DIV	Frameshift	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
1284	24	c.4488delA	p.Asn1554LysfsX5	DIII-DIV	Frameshift	Haploinsufficiency	SMEI	De novo	Lim BC.2011
1285	24	c.4488_4492delAGACA	p.Gln1496HisfsX12	DIII-DIV	Frameshift	Haploinsufficiency	SMEI	NA	Usluer S.2016
1286	24	c.4490A>G	p.Asp1497Gly	DIII-DIV	Missense	P/﹣→N (94)	SMEI	De novo	L?fgren A.2010(unpublished)
1286	24	c.4490A>G	p.Asp1497Gly	DIII-DIV	Missense	P/﹣→N (94)	SMEI	NA	Ozmen M.2011
1287	23	c.4493T>A	p.Ile1498Asn	DIII-DIV	Missense	N→P/O (149)	Ep and/or NDD	NA	Lindy AS.2018
1288	24	c.4494C>G	p.Ile1498Met	DIII-DIV	Missense	N→N (10)	FHM	Familial(Paternal,FHM),P=3/3	Weller CM.2014
1289	24	c.4494delC	p.Phe1499LeufsX2	DIII-DIV	Frameshift	Haploinsufficiency	SME	NA	Lam C.2014
1290	24	c.4495T>C	p.Phe1499Leu	DIII-DIV	Missense	N→N (22)	FHM + ERDB	Familial(Maternal,FHM),p=4/4	Vahedi K. 2009
1291	24	c.4497delT	p.Phe1499LeufsX2	DIII-DIV	Frameshift	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
1292	24	c.4498A>G	p.Met1500Val	DIII-DIV	Missense	N→N ((21)	HM3	NA	Domitrz I.2016
1293	24	c.4503delA	p.Glu1502LysfsX10	DIII-DIV	Frameshift	Haploinsufficiency	SMEI	De novo	Do TT.2017
1294	24	c.4507G>A	p.Glu1503Lys	DIII-DIV	Missense	P/﹣→P/﹢(56)	SMEI	De novo	Shi X.2009
							SMEB	NA	Zuberi SM.2011
							SMEB	De novo	Wang JW.2012
1295	24	c.4507_4509delGAA	p.Glu1503del	DIII-DIV	In-frame deletion	ND	SMEB	De novo	Wang JW.2012
1296	24	c.4508A>G	p.Glu1503Gly	DIII-DIV	Missense	P/﹣→N (98)	SME	NA	Moehring J.2013
1297	24	c.4510_4517dupCAGAAGAA	p.Lys1506AsnfsX9	DIII-DIV	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1298	24	c.4511A>T	p.Gln1504Leu	DIII-DIV	Missense	P/O→N (113)	Ep and/or NDD	NA	Lindy AS.2018
1299	24	c.4519T>G	p.Tyr1507Asp	DIII-DIV	Missense	P/O→P/﹣((160)	SMEI	NA	Ishii A.2017
1300	24	c.4521C>G	p.Tyr1507X	DIII-DIV	Nonsense	Haploinsufficiency	SMEI	NA	Helbig KL.2016
1300	24	c.4521C>G	p.Tyr1507X	DIII-DIV	Nonsense	Haploinsufficiency	SMEI	NA	Farwell KD.2015

... 25 26 27 28 29 30 31 32 ...

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.