SCN1A mutation database!

SCN1A mutations list 33/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1601	26	c.5287A>T	p.Ile1763Phe	DIVS6	Missense	N→N (21)	SMEI	De novo	Zuberi SM.2011
1602	26	c.5288T>A	p.Ile1763Asn	DIVS6	Missense	N→P/O(149)	SMEI	De novo	Zuberi SM.2011
1603	26	c.5291_5292insT	p.Phe1765LeufsX30	DIVS6	Frameshift	Haploinsufficiency	SMEI	NA	Fujiwara T.2003
1604	26	c.5291T>A	p.Phe1764Tyr	DIVS6	Missense	N→P/O (22)	Ep and/or NDD	NA	Lindy AS.2018
1605	26	c.5295T>A	p.Phe1765Leu	DIVS6	Missense	N→N (22); LOF	PEFS+	De novo	Liao WP.2010
1606	26	c.5295delTTTT	p.Phe1765LeufsX13	DIVS6	Frameshift	Haploinsufficiency	SMEI	De novo	Marini C.2007
1607	26	c.5296_5298delTTT	p.Phe1766del	DIVS6	In-frame deletion	ND	SMEB	NA	Fukuma G.2004
1607	26	c.5296_5298delTTT	p.Phe1766del	DIVS6	In-frame deletion	ND	SMEB	De novo	Wang JW.2012
1608	26	c.5297_5298delTT	p.Phe1766CysfsX28	DIVS6	Frameshift	Haploinsufficiency	SMEI	NA	Xu X.2015
1609	26	c.5304T>G	p.Ser1768Arg	DIVS6	Missense	P/O→P/﹢(110)	SMEI	De novo	Willemsen MH.2012
1610	26	c.5305T>C	p.Tyr1769His	DIVS6	Missense	P/O→P/﹢(83)	FS+	NA	Hattori J.2008
1611	26	c.5308A>T	p.Ile1770Phe	DIVS6	Missense	N→N (21)	SMEI	NA	Zuberi SM.2011
1612	26	c.5308_5309delAT	p.Ile1770HisfsX24	DIVS6	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1613	26	c.5309T>A	p.Ile1770Asn	DIVS6	Missense	N→P/O(149)	SMEI	NA	Zuberi SM.2011
1613	26	c.5309T>A	p.Ile1770Asn	DIVS6	Missense	N→P/O(149)	Secondary epilepsy	NA	Tang S.2011
1614	26	c.5309T>C	p.Ile1770Thr	DIVS6	Missense	N→P/O (89)	SMEB	NA	Zuberi SM.2011
1615	26	c.5311A>T	p.Ile1771Phe	DIVS6	Missense	N→N (21)	PEFS+	De novo	Okumura A.2007
1615	26	c.5311A>T	p.Ile1771Phe	DIVS6	Missense	N→N (21)	SMEB	De novo	Wang JW.2012
1616	26	c.5312T>A	p.Ile1771Asn	DIVS6	Missense	N→P/O(149)	SMEI	NA	Depienne C.2009
1617	26	c.5314G>A	p.Ala1772Thr	DIVS6	Missense	N→P/O (58)	SMEI	NA	Esterhuizen AI.2018
1617	26	c.5314G>A	p.Ala1772Thr	DIVS6	Missense	N→P/O (58)	SMEI	De novo	Liu J.2018
1618	26	c.5318C>T	p.Ser1773Phe	DIVS6	Missense	P/O→N(155)	SMEI	De novo	Mancardi MM.2006
1619	26	c.5318C>A	p.Ser1773Tyr	DIVS6	Missense	P/O→P/O (144)	Developmental and epileptic encephalopathy	De novo	Hamdan FF.2017
1620	26	c.5321T>C	p.Phe1774Ser	DIVS6	Missense	N→P/O (155)	HM3	NA	Chastan N.2016
1620	26	c.5321T>C	p.Phe1774Ser	DIVS6	Missense	N→P/O (155)	HM3	NA	Bertelli S.2019
1621	26	c.5324T>C	p.Leu1775Pro	DIVS6	Missense	N→N (98)	SMEI	NA	Jimenez-Arredondo RE.2017
1622	26	c.5326G>T	p.Val1776Phe	DIVS6	Missense	N→N (50)	SMEI	NA	Ishii A.2017
1623	26	c.5334delG	p.Asn1779ThrfsX22	DIVS6	Frameshift	Haploinsufficiency	SMEI	NA	Sun H.2010
1624	26	c.5339T>C	p.Met1780Thr	DIVS6	Missense	N→P/O(81)	SMEI	De novo	Nabbout R.2003
							SMEB-O	De novo	Harkin LA.2007
							SMEI	De novo	Depienne C.2009
							SMEI	NA	Zuberi SM.2011
1625	26	c.5341T>C	p.Tyr1781His	DIVS6	Missense	P/O→P/﹢(83)	SMEI	De novo	Depienne C.2009
1626	26	c.5342A>G	p.Tyr1781Cys	DIVS6	Missense	P/O→N(184)	SMEI	NA	Fukuma G.2004
1626	26	c.5342A>G	p.Tyr1781Cys	DIVS6	Missense	P/O→N(184)	IE	NA	Wang JW.2012
1627	26	c.5345T>G	p.Ile1782Ser	DIVS6	Missense	N→P/O(142)	SMEI	NA	Depienne C.2009
1628	26	c.5346C>G	p.Ile1782Met	DIVS6	Missense	N→N (10)	SMEI	Familial(Paternal,mosaic,SEHT),P=1/1	Depienne C.2009,2010
1628	26	c.5346C>G	p.Ile1782Met	DIVS6	Missense	N→N (10)	SME	NA	Villeneuve N.2014
1629	26	c.5347G>A	p.Ala1783Thr	DIVS6	Missense	N→P/O(58)	SMEI/SMEB-SW	De novo	Harkin LA.2007
							SMEI	NA	Depienne C.2009
							SMEI	1De novo;1NA	Sun H.2010
							Epilepsy,idiopathic	NA	Klassen T.2011
							SMEI	Familial(Maternal,mosaic,GEFS+),P=1/1	Petrelli C.2012
							SMEI	De novo	Wang JW.2012
							SME	NA	Moehring J.2013
							SME	De novo	Gaily E.2013
							DS	De novo	Hern
							SME	De novo	Djemie T.2016
							Epilepsy and/or NDD	NA	Lindy AS.2018
1630	26	c.5348C>T	p.Ala1783Val	DIVS6	Missense	N→N (64)	SMEI	De novo	Marini C.2007
							SMEI	De novo	Depienne C.2009
							SMEI	De novo	Zuberi SM.2011
							SMEI	De novo	Petrelli C.2012
							SMEI	NA	Wang JW.2012
							SMEI with SUDEP	De novo	Klassen TL.2014
							SMEI	NA	Butler KM.2017
							Epilepsy and/or NDD	NA	Lindy AS.2018
1631	26	c.5349_5352dupGGTC	p.Ile1785fsX11	DIVS6	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
1632	26	c.5359G>A	p.Glu1787Lys	DIVS6	Missense	P/﹣→P/﹢(56)	SMEI	NA	Marini C.2007
1632	26	c.5359G>A	p.Glu1787Lys	DIVS6	Missense	P/﹣→P/﹢(56)	SMEI	NA	Zuberi SM.2011
1633	26	c.5361G>T	p.Glu1787Asp	DIVS6	Missense	P/﹣→P/﹣(45)	Ep and/or NDD	NA	Lindy AS.2018
1634	26	c.5363_5364insTGACTTT	p.Asn1788MetfsX9	C-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Wallace RH.2003
1635	26	c.[5364C>A(;)2816A>C]	p.[Asn1788Lys(;)His939Pro]	C-terminal	Missense	[P/O→P/﹢(94); P/﹢→N (77)]	SMEI	NA	Depienne C.2009
1635	26	c.[5364C>A(;)2816A>C]	p.[Asn1788Lys(;)His939Pro]	C-terminal	Compound	[P/O→P/﹢(94); P/﹢→N (77)]	SMEI	NA	Depienne C.2009
1636	26	c.5367_5368delCA	p.Phe1789LeufsX5	C-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Marini C.2007
1637	26	c.5374G>A	p.Ala1792Thr	C-terminal	Missense	N→P/O(58)	SMEI	De novo	Wang JW.2012
1638	26	c.5375C>G	p.Ala1792Gly	C-terminal	Missense	N→N (60)	SME	De novo	Gaily E.2013
1639	26	c.5375C>A	p.Ala1792Asp	C-terminal	Missense	N→P/﹣(126)	Ep and/or NDD	NA	Lindy AS.2018
1640	26	c.5383G>A	p.Glu1795Lys	C-terminal	Missense	P/﹣→P/﹢(56)	GEFS+	Familial(Paternal,GEFS+),P=5/5	Li N.2010
1641	26	c.5383G>C	p.Glu1795Gln	C-terminal	Missense	P/-→P/O (29)	Ep and/or NDD	NA	Lindy AS.2018
1642	26	c.5384A>G	p.Glu1795Gly	C-terminal	Missense	P/﹣→N (98)	Epilepsy, early-onset	De novo	Stanek D.2018
1643	26	c.5389G>C	p.Ala1797Pro	C-terminal	Missense	N→N (27)	Tonic-clonic + focal seizures	NA	Butler KM.2017
1644	26	c.5390delC	p.Ala1797GlufsX4	C-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Cho MJ.2018
1645	26	c.5403_5406delTGAG	p.Ser1801ArgfsX56	C-terminal	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1646	26	c.5404G>T	p.Glu1802X	C-terminal	Nonsense	Haploinsufficiency	SMEI	NA	Xu X.2015
1647	26	c.5414_5415delTT	p.Phe1805X	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Nabbout R.2003
1648	26	c.5416G>T	p.Glu1806X	C-terminal	Nonsense	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1649	26	c.5419_5430delATGTTCTATGAG	p.Met1807_Glu1810del	C-terminal	In-frame deletion	ND	SMEI	NA	Fujiwara T.2003
1650	26	c.5422T>C	p.Phe1808Leu	C-terminal	Missense	N→N (22); G-LOF	ICEGTC	NA	Fujiwara T.2003
1650	26	c.5422T>C	p.Phe1808Leu	C-terminal	Missense	N→N (22); G-LOF	SMEI	NA	Epi4K consortium..2017

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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.