SCN1A mutation database!

SCN1A mutations list 29/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1401	25	c.4803delC	p.Ile1602LeufsX16	DIVS2-S3	Frameshift	Haploinsufficiency	SMEI	De novo	Yang X.2017
1402	25	c.4811G>A	p.Trp1604X	DIVS3	Nonsense	Haploinsufficiency	SMEI	NA	Xu X.2015
1403	25	c.4814A>G	p.Asn1605Ser	DIVS3	Missense	P/O→P/O(46)	SMEB	De novo	Zuberi SM.2011
1404	25	c.4814A>T	p.Asn1605Ile	DIVS3	Missense	P/O→N (149)	SMEI	NA	Parrini E.2017
1405	25	c.4820_4821delTT	p.Phe1607X	DIVS3	Nonsense	Haploinsufficiency	SMEI	NA	Parrini E.2017
1406	25	c.4821delT	p.Phe1607LeufsX11	DIVS3	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1407	25	c.4822G>T	p.Asp1608Tyr	DIVS3	Missense	P/﹣→P/O(160)	SMEI	De novo	Marini C.2007
1407	25	c.4822G>T	p.Asp1608Tyr	DIVS3	Missense	P/﹣→P/O(160)	SME	NA	Xu X.2014
1408	25	c.4823delA	p.Asp1608ValfsX10	DIVS3	Frameshift	Haploinsufficiency	SMEI	De novo	Sun H.2010
1409	25	c.4823A>G	p.Asp1608Gly	DIVS3	Missense	P/﹣→N (94)	SMEI	De novo	Wang JW.2012
1410	25	c.4827delT	p.Phe1609LeufsX1610	DIVS3	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1411	25	c.4827dupT	p.Val1610fsX33	DIVS3	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
1412	25	c.4829_4830dupTG	p.Val1611TrpfsX8	DIVS3	Frameshift	Haploinsufficiency	SMEI	NA	Xu X.2015
1413	25	c.4831G>T	p.Val1611Phe	DIVS3	Missense	N→N (50); GOF	GEFS+	Familial(Maternal,GEFS+),P=2/2	Fujiwara T.2003, Kanai K.2004
1414	25	c.4834G>A	p.Val1612Ile	DIVS3	Missense	N→N (29)	NA	Familial(Paternal)	Depienne C.2009
							SMEI	Familial(Maternal,asympt)	Kwong AK.2012
							SME	NA	Lee HF.2014
1415	25	c.4841delT	p.Leu1614ProfsX4	DIVS3	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
1416	25	NA	p.Ser1615fs	DIVS3	Frameshift	Haploinsufficiency	SME	NA	Lee HF.2014
1417	25	c.4847T>C	p.Ile1616Thr	DIVS3	Missense	N→P/O (89)	PEFS+/GEFS+/FS+	3NA	Hattori J.2008
1417	25	c.4847T>C	p.Ile1616Thr	DIVS3	Missense	N→P/O (89)	PEFS+	Familial(Paternal,mosaic,asympt),P=1/1	Shi YW.2012
1418	IVS25	c.4852+2T>C		DIVS3	Splice donor site	ND	SMEI	NA	Zuberi SM.2011
1419	IVS25	c.4852+3A>T		DIVS3	Splice donor site	ND	NA	De novo	L?fgren A.2010(unpublished)
1419	IVS25	c.4852+3A>T		DIVS3	Splice donor site	ND	SMEI	De novo	Mahdieh N.2018
1420	IVS25	c.4852+1A>G		DIVS3	Splice donor site	ND	SMEI	NA	Cetica V.2017
1421	IVS25	c.4852+5G>C		DIVS3	Splice donor site	ND	Ep and/or NDD	NA	Lindy AS.2018
1422	IVS25	c.4853-2A>T		DIVS3	Splice acceptor site	ND	SMEI	NA	Zuberi SM.2011
1423	IVS25	c.4853-14T>G		DIVS3	Splice acceptor site	ND	SMEI	De novo	Harkin LA.2007
1424	IVS25	c.4853-2delA		DIVS3	Splice acceptor site	ND	NA	NA	L?fgren A.2010(unpublished)
1425	IVS25	c.4853-1G>C		DIVS3	Splice acceptor site	ND	SMEI	De novo	Mancardi MM.2006
1425	IVS25	c.4853-1G>C		DIVS3	Splice acceptor site	ND	IE	De novo	Wang JW.2012
1426	IVS25	c.4853-2A>C		DIVS3	Splice acceptor site	ND	SMEI+AE	NA	Okumura A.2012
							SMEI	NA	Wang JW.2012
							SMEI	NA	Ishii A.2017
1427	IVS25	c.4853-1G>A		DIVS3	Splice acceptor site	ND	SMEI	NA	Djemie T.2016
1428	26	c.4855A>G	p.Met1619Val	DIVS3	Missense	N→N (21)	IE	Familial(Maternal)	Wang JW.2012
1429	26	c.4858T>G	p.Phe1620Val	DIVS3	Missense	N→N (50)	GEFS+	NA	Cetica V.2017
1430	26	c.4871T>A	p.Leu1624Gln	DIVS3	Missense	N→P/O (113)	FFE	Maternal	Oates S.2018
1431	26	c.4871T>C	p.Leu1624Pro	DIVS3	Missense	N→N (98)	HM3	Familial.Maternal),P=3/3	Fan C.2016
1432	26	c.4879_4883dupAAGTA	p.Tyr1628X	DIVS3-S4	Frameshift	Haploinsufficiency	SMEI	De novo	Sun H.2010
1433	26	c.4884T>A	p.Tyr1628X	DIVS3-S4	Nonsense	Haploinsufficiency	SMEI	De novo	Nabbout R.2003
1434	26	c.4888G>A	p.Val1630Met	DIVS3-S4	Missense	N→N (21)	SMEI	Familial	Marini C.2007
1434	26	c.4888G>A	p.Val1630Met	DIVS3-S4	Missense	N→N (21)	Epilepsy and/or NDD	NA	Lindy AS.2018
1435	26	c.4888G>C	p.Val1630Leu	DIVS3-S4	Missense	N→N (32)	SMEB	NA	Wang JW.2012
							SMEB	Familial(Maternal)	Wang JW.2012
							SME+AE	NA	Okumura A.2012
1436	26	c.4889T>G	p.Val1630Gly	DIVS3	Missense	N→N (109)	SMEI	De novo	Djemie T.2016
1437	26	c.4892C>G	p.Ser1631Cys	DIVS3-S4	Missense	P/O→N (112)	SMEI	NA	Haginoya K.2018
1438	26	c.4894C>T	p.Pro1632Ser	DIVS3-S4	Missense	N→P/O (74); G-LOF	ICEGTC	NA	Fujiwara T.2003
1439	26	c.4896dupT	p.Thr1633TyrfsX10	DIVS3-S4	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1440	26	c.4899delC	p.Leu1634CysfsX4	DIVS2-S3	Frameshift	Haploinsufficiency	SMEI	NA	Rilstone JJ.2012
1441	26	c.4905C>G	p.Phe1635Leu	DIVS4	Missense	N→N (22)	FS+/GEFS+	Familial.Maternal,asympt)	Zhang YH.2017
1442	26	c.4906C>T	p.Arg1636X	DIVS4	Nonsense	Haploinsufficiency	SMEB	NA	Zuberi SM.2011
							SMEI	De novo	Lim BC.2011
							SMEI	NA	Cetica V.2017
							Epilepsy and/or NDD	NA	Lindy AS.2018
							SMEI	De novo	Tsai MH.2018
							SMEI	De novo	Tsai MH.2018
1443	26	c.4907G>A	p.Arg1636Gln	DIVS4	Missense	P/﹢→P/O (43)	LGS(No FS)	De novo	Harkin LA.2007
1443	26	c.4907G>A	p.Arg1636Gln	DIVS4	Missense	P/﹢→P/O (43)	SMEI	De novo	Butler KM.2017
1444	26	c.4907G>C	p.Arg1636Pro	DIVS4	Missense	P/﹢→N (102)	MMPSI	De novo	Gokben S.2017
1445	26	c.4910T>A	p.Val1637Glu	DIVS4	Missense	N→P/﹣(121)	SMEI	NA	Zuberi SM.2011
1445	26	c.4910T>A	p.Val1637Glu	DIVS4	Missense	N→P/﹣(121)	SMEI	De novo	Nishri D.2010
1446	26	c.4911_4914delGATC	p.Ile1638ValfsX11	DIVS4	Frameshift	Haploinsufficiency	SMEI	NA	Depienne C.2009
1447	26	c.4913T>C	p.Ile1638Thr	DIVS4	Missense	N→P/O (89)	SMEI/Unclassified	2De novo	Zuberi SM.2011
1448	26	c.4913T>A	p.Ile1638Asn	DIVS4	Missense	N→P/O (149)	SMEI	De novo	Wang JW.2012
1449	26	c.4915C>G	p.Arg1639Gly	DIVS4	Missense	P/﹢→N (125)	SMEI	NA	Depienne C.2009
1450	26	c.4915delC	p.Arg1639ValfsX11	DIVS4	Frameshift	Haploinsufficiency	SMEI	NA	Kumar A.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.