SCN1A mutation database!

SCN1A mutations list 34/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1651	26	c.5422T>A	p.Phe1808Ile	C-terminal	Missense	N→N (21)	SME	De novo	Depienne C.2009
1652	26	c.5434T>G	p.Trp1812Gly	C-terminal	Missense	N→N (184)	SMEI	De novo	Fujiwara T.2003
							DS	NA	Skjei KL.2015
							Epilepsy and/or NDD	NA	Lindy AS.2018
1653	26	c.5434T>A	p.Trp1812Arg	C-terminal	Missense	N→P/﹢ (101)	Ep and/or NDD	NA	Lindy AS.2018
1654	26	c.5435G>A	p.Trp1812X	C-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Petrelli C.2012
1654	26	c.5435G>A	p.Trp1812X	C-terminal	Nonsense	Haploinsufficiency	Epilepsy and/or NDD	NA	Lindy AS.2018
1655	26	c.5435G>C	p.Trp1812Ser	C-terminal	Missense	N→P/O(177)	SMEI	De novo	Depienne C.2009
1656	26	c.5436G>A	p.Trp1812X	C-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Harkin LA.2007
							SMEI	NA	Cetica V.2017
							SMEI	NA	Rodda JM.2012
1657	26	c.5436_5444delGGAGAAGTT	p.Glu1813_1815Lysdel	C-terminal	In-frame deletion	ND	SMEI	De novo	Nabbout R.2003
1658	26	c.5439_5447del9	p.Glu1813_Phe1815del	C-terminal	In-frame deletion	ND	SME	De novo	Depienne C.2009
1659	26	c.5443G>A	p.Gln1815Lys	C-terminal	Missense	P/O→P/﹢(53)	EE	De novo	Mercimek-Mahmutoglu S.2015
1660	26	c.5455G>T	p.Ala1819Ser	C-terminal	Missense	N→P/O (99)	GEFS+	NA	Cetica V.2017
1661	26	c.5461C>T	p.Gln1821X	C-terminal	Nonsense	Haploinsufficiency	SME	NA	Xu X.2014
1661	26	c.5461C>T	p.Gln1821X	C-terminal	Nonsense	Haploinsufficiency	SME	De novo	Djemie T.2016
1662	26	c.5468T>G	p.Met1823Arg	C-terminal	Missense	N→P/﹢(91)	SMEI	NA	Ishii A.2017
1663	26	c.5470G>T	p.Glu1824X	C-terminal	Nonsense	Haploinsufficiency	SME	NA	Xu X.2014
1664	26	c.5474T>C	p.Phe1825Ser	C-terminal	Missense	N→P/O(155)	SMEI	Familial(Maternal)	L?fgren A.2010(unpublished)
1665	26	c.5483T>C	p.Leu1828Ser	C-terminal	Missense	N→P/O(145)	NA	De novo	L?fgren A.2010(unpublished)
1665	26	c.5483T>C	p.Leu1828Ser	C-terminal	Missense	N→P/O(145)	Neurodevelopmental disorder, epilepsy-related	Familial.more severe compared with proband)	Stosser MB.2018
1666	26	c.5488_5489delCA	p.Gln1830ValfsX6	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	L?fgren A.2010(unpublished)
1667	26	c.5488C>T	p.Gln1830X	C-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
1668	26	c.5492T>C	p.Phe1831Ser	C-terminal	Missense	N→P/O(155); pLOF	SMEI	NA	Fujiwara T.2003
1668	26	c.5492T>C	p.Phe1831Ser	C-terminal	Missense	N→P/O(155); pLOF	SMEI	De novo	Le Gal F.2014
1669	26	c.5493delT	p.Phe1831LeufX27	C-terminal	Frameshift	Haploinsufficiency	SMEI	Familial(Maternal,mosaic,IGE),P=2/2	Depienne C.2009
1670	26	c.5494G>C	p.Ala1832Pro	C-terminal	Missense	N→N (27)	SMEI	NA	Zuberi SM.2011
1671	26	c.5503C>T	p.Leu1835Phe	C-terminal	Missense	N→N (22)	SMEI	De novo	Depienne C.2009
1671	26	c.5503C>T	p.Leu1835Phe	C-terminal	Missense	N→N (22)	SMEI	NA	Depienne C.2009
1672	26	c.5504_5512delTTGAACCGC	p.Leu1835_Pro1837del	C-terminal	In-frame deletion	ND	Ep and/or NDD	NA	Lindy AS.2018
1673	26	c.5506dupG	p.Glu1836GlyfsX25	C-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Depienne C.2009
1674	26	c.5509C>T	p.Gln1837X	C-terminal	Nonsense	Haploinsufficiency	SMEI	NA	Wang JW.2012
1675	26	c.5513C>T	p.Pro1838Leu	C-terminal	Missense	N→N (98)	SMEI	De novo	Yang X.2017
1676	26	c.5515C>G	p.Leu1839Val	C-terminal	Missense	N→N (32)	SME	NA	Xu X.2014
1677	26	c.5516T>C	p.Leu1839Pro	C-terminal	Missense	N→N (98)	DS	De novo	Wu YW.2015
1678	26	c.5522T>C	p.Leu1841Pro	C-terminal	Missense	N→N (98)	SMEI	NA	Kumar A.2018
1679	26	c.5526_5668del	p.Gln1843ArgfsX54	C-terminal	Frameshift	Haploinsufficiency	ADNFLE	De novo	L?fgren A.2010(unpublished)
1680	26	c.5532dupC	p.Met1845HisfsX5	C-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Ko A.2018
1681	26	c.5534A>C	p.Asn1845Thr	C-terminal	Missense	P/O→P/O(65)	SMEB	Familial(Paternal)	L?fgren A.2010(unpublished)
1682	26	c.5536_5539delAAAC	p.Lys1846SerfsX11	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
							SMEI	De novo	Claes L.2001
							SMEI	De novo	Wallace RH.2003
							SMEI	De novo	Kearney JA.2006
							SMEB-SW	De novo	Harkin LA.2007
							CFE	De novo	Zucca C.2008
							SMEI	De novo	Depienne C.2009
							SMEI	NA	Sun H.2010
							SMEI	NA	Zuberi SM.2011
							SMEI	De novo	Petrelli C.2012
							SMEB	De novo	Nicita F.2010
							SME+AE	NA	Okumura A.2012
							SME	NA	Lee HF.2014
							Unclassified	NA	Djemie T.2016
							SMEI	NA	Haginoya K.2018
							Epilepsy and/or NDD	NA	Lindy AS.2018
1683	26	c.5536A>T	p.Lys1846X	C-terminal	Nonsense	Haploinsufficiency	SMEI	NA	Sun H.2010
1684	26	c.5542C>T	p.Gln1848X	C-terminal	Nonsense	Haploinsufficiency	SMEI	NA	Ishii A.2017
1685	26	c.5549T>G	p.Ile1850Ser	C-terminal	Missense	N→P/O (142); LOF	Episodic ataxia	NA	Choi KD.2017
1686	26	c.5555T>A	p.Met1852Lys	C-terminal	Missense	N→P/﹢(95)	SMEI	NA	Zuberi SM.2011
1688	26	c.5555T>C	p.Met1852Thr	C-terminal	Missense	N→P/O(81); pLOF	SMEI	Familial(Paternal,FS+),P=5/5	Annesi G.2003
1688	26	c.5555T>C	p.Met1852Thr	C-terminal	Missense	N→P/O(81); pLOF	GEFS+	Pyrosequencing：26%;mosaic(Paternal,asympt),	Xu X.2015
1689	26	c.5555dupT	p.Met1852IlefsX9	C-terminal	Frameshift	Haploinsufficiency	IE	NA	Wang JW.2012
1690	26	c.5561T>C	p.Leu1854Ser	C-terminal	Missense	N→P/O(145)	GEFS+	De novo	L?fgren A.2010(unpublished)
1691	26	c.5563C>T	p.Pro1855Ser	C-terminal	Missense	N→P/O (74)	Ep	NA	Butler KM.2017
1692	26	c.5564C>T	p.Pro1855Leu	C-terminal	Missense	N→N (98)	SMEI	De novo	Zuberi SM.2011
1693	26	c.5567T>C	p.Met1856Thr	C-terminal	Missense	N→P/O(81)	FS+	NA	Hattori J.2008
1693	26	c.5567T>C	p.Met1856Thr	C-terminal	Missense	N→P/O(81)	Epilepsy and/or NDD	NA	Lindy AS.2018
1694	26	c.5567T>A	p.Met1856Lys	C-terminal	Missense	N→P/﹢ (95)	Ep and/or NDD	NA	Lindy AS.2018
1695	25	c.5569G>T	p.Val1857Leu	C-terminal	Missense	N→N (32)	GEFS+	Familial(Paternal,FS),P=2/2	Nagao Y.2005
1696	26	c.5574dupT	p.Gly1859TrpfsX2	C-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Depienne C.2009
1697	26	c.5579delAinsTCTCC	p.Asp1860ValfsX8	C-terminal	Frameshift	Haploinsufficiency	SMEB	De novo	Nicita F.2010
1698	26	c.5581C>T	p.Arg1861Trp	C-terminal	Missense	P/﹢→N (101)	IE	NA	Wang JW.2012
1699	26	c.5582G>C	p.Arg1861Pro	C-terminal	Missense	P/﹢→N (102)	Ep and/or NDD	NA	Lindy AS.2018
1700	26	c.5596G>T	p.Asp1866Tyr	C-terminal	Missense	P/﹣→P/O(160); GOF	GEFS+	Familial(Maternal,GEFS+),P=4/4	Spampanato J.2004

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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.