SCN1A mutation database!

SCN1A mutations list 36/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1751	26	c.5778C>G	p.Tyr1926X	C-terminal	Nonsense	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
1752	26	c.5779A>G	p.Arg1927Gly	C-terminal	Missense	P/﹢→N (125); pLOF	GEFS+	Familial(Paternal,GEFS+),P=2/2	Combi R.2009
							GEFS+	NA	O\'Roak BJ.2012
							GEFS+	NA	Iossifov I.2014
1753	26	c.5780_5781del2ins8	p.Arg1927delinsIle,Ile,Gln	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
1754	26	c.5780G>C	p.Arg1927Thr	C-terminal	Missense	N→P/﹢(112)	SMEI	NA	Xu X.2015
1755	26	c.5782C>G	p.Arg1928Gly	C-terminal	Missense	P/﹢→N (125)	SMEI	NA	Zucca C.2008
							SMEI	NA	Cetica V.2017
							SMEI	NA	Lal D.2016
1756	26	c.5788delC	p.Leu1930PhefsX2	C-terminal	Frameshift	Haploinsufficiency	SMEB	De novo	Zuberi SM.2011
1757	26	c.5806A>G	p.Lys1936Glu	C-terminal	Missense	P/﹢→P/﹣(56)	Ep and/or NDD	NA	Lindy AS.2018
1758	26	c.5810A>G	p.Gln1937Arg	C-terminal	Missense	P/﹣→P/﹢ (43)	GEFS+2	De novo	Usluer S.2016
1759	26	c.5851G>T	p.Ala1951Ser	C-terminal	Missense	N→P/O(99)	SMEI	NA	Cetica V.2017
1760	26	c.5864T>C	p.Ile1955Thr	C-terminal	Missense	N→P/O (89)	GEFS+	Familial(Paternal,asympt),P=1/2	Polizzi A.2012
1760	26	c.5864T>C	p.Ile1955Thr	C-terminal	Missense	N→P/O (89)	ASD	NA	Weiss LA.2003
1761	26	c.5870A>G	p.Glu1957Gly	C-terminal	Missense	P/﹣→N (98)	IS(No FS)	NA	Wallace RH.2003
1761	26	c.5870A>G	p.Glu1957Gly	C-terminal	Missense	P/﹣→N (98)	SMEI	NA	Cherepanova NS.2013
1762	26	c.5929A>C	p.Met1977Leu	C-terminal	Missense	N→N (15)	FS+	NA	Saitoh M.2012
1763	26	c.5962C>T	p.Arg1988Trp	C-terminal	Missense	P/﹢→N (101)	Epilepsy-aphasia with FS+	Familial(Paternal,Epilepsy-aphasia with FS),P=3/3	Carvill GL.2013
1764	3'UTR	c.*1794C>T		3'UTR	Missense	Negatively Regulate the reporter gene expression	SMEI	Familial(Maternal,asympt),P=1/2	Zeng T. 2014
1765	5?UTR (noncoding exon)	del SCN1A 5?UTR (73.8Kb)	del SCN1A	5?UTR	Partial gene deletion		SMEI	De novo	Nakayama T.2010
1766	5?UTR (noncoding exon)	del SCN1A 5?UTR, SCN7A,SCN9A	del SCN1A,7A,9A	5?UTR	Partial gene deletion		SMEB	NA	Nakayama T.2010
1767	exon 1	del SCN1A exon 1	del SCN1A	N-terminal	Partial gene deletion		SMEI	NA	Zuberi SM.2011
1768	exon 1-13	del SCN1A exon 1-13	del SCN1A		Partial gene deletion		SME	NA	Marini C.2009
1769	exon 1-16	del SCN1A exon 1-16	del SCN1A		Partial gene deletion		SMEI	De novo	Depienne C.2009
1769	exon 1-16	del SCN1A exon 1-16	del SCN1A		Partial gene deletion		SMEI	NA	Zuberi SM.2011
1770	exon 1-20	del SCN1A exon 1-20	del SCN1A		Partial gene deletion		SMEB	NA	Lim BC.2011
1771	exon 1-22	del SCN1A exon 1-22	del SCN1A		Partial gene deletion		SME	De novo	Marini C.2009
1771	exon 1-22	del SCN1A exon 1-22	del SCN1A		Partial gene deletion		SMEI	Familial(Maternal,mosaic,asympt)	Altarescu G.2012
1772	exon 1-23	del SCN1A exon 1-23	del SCN1A		Partial gene deletion		NA	NA	Depienne C.2009
1773	exon 1-26	del SCN1A exon 1-26	del SCN1A		Whole gene deletion		PME	NA	Wang JW.2012
							SME/SMEI	NA	Marini C.2007
							5SMEI;1NA	6NA	Depienne C.2009
							SMEI	6De novo;2NA	Zuberi SM.2011
							SMEI	NA	Reyes IS. 2011
							SMEI	3De novo;1NA	Shi X. 2012
							SMEI	Probably familial	Depienne C.2010
							SMEI	Familial(Paternal,mosaic,asympt), p=3/3	Suls A.2010
							SMEI	NA	Catarino CB. 2011
							SME	NA	Lim BC.2015
1774	exon 2-4	del SCN1A exon 2-4	del SCN1A		Partial gene deletion		SMEI	Familial(Maternal,asympt), p=5/5	Guerrini R.2010
1775	exon 2-6	del SCN1A exon 2-6	del SCN1A		Partial gene deletion		SME/SMEI	NA	Striano P.2007
1775	exon 2-6	del SCN1A exon 2-6	del SCN1A		Partial gene deletion		SME/SMEI	NA	Marini C.2009
1776	exon 2-16	del SCN1A exon 2-16	del SCN1A		Partial gene deletion		SFE	NA	Nakayama T.2010
1777	exon 3	del SCN1A exon 3	del SCN1A	DIS1-S2	Partial gene deletion		SME	NA	Marini C.2009
1778	exon 7-9	del SCN1A exon 7-9	del SCN1A		Partial gene deletion		Probable SME	De novo	Depienne C.2009
1779	exon 7-26	del SCN1A exon 7-26	del SCN1A		Partial gene deletion		SME	NA	Marini C.2009
1780	exon 8-26	del SCN1A exon 8-26	del SCN1A		Partial gene deletion		SMEI	De novo	Wang JW.2008
1781	exon 9	del SCN1A exon 9	del SCN1A		Partial gene deletion		SMEI	NA	Depienne C.2009
1782	exon 10	del SCN1A exon 10	del SCN1A	DI-DII	Partial gene deletion		SME	NA	Hattori J.2008
1783	exon 12-14	del SCN1A exon 12-14	del SCN1A		Partial gene deletion		SMEI	NA	Marini C.2007
1783	exon 12-14	del SCN1A exon 12-14	del SCN1A		Partial gene deletion		SMEI	NA	Marini C.2009
1784	exon 14-15	del SCN1A exon 14-15	del SCN1A		Partial gene deletion		NA	NA	L?fgren A.2010(unpublished)
1784	exon 14-15	del SCN1A exon 14-15	p.Val806_Gly982del		Partial gene deletion		SMEI	NA	Ozmen M.2011
1785	exon 14-16	del SCN1A exon 14-16	del SCN1A		Partial gene deletion		SMEI	De novo	Nakayama T.2010
1786	exon 14-20	del SCN1A exon 14-20	del SCN1A		Partial gene deletion		SMEI	NA	Depienne C.2009
1787	exon 17-18	del SCN1A exons 17-18	del SCN1A		Partial gene deletion		SMEI	NA	Zuberi SM.2011
1788	exon 17-20	del SCN1A exons 17-20	del SCN1A		Partial gene deletion		DS	NA	Skjei KL.2015
1789	exon 17-26	del SCN1A exon 17-26	del SCN1A		Partial gene deletion		SMEI	NA	Wang JW.2008
							SMEI	2De novo;1NA	Zuberi SM.2011
							SMEI	2De novo	Shi X. 2012
							SMEI	De novo	Wang JW.2012
							SMEI	NA	Nakayama T.2010
1790	exon 19-20	del SCN1A exon 19-20	del SCN1A	DIIIS3-S4	Partial gene deletion		SMEB	NA	Nakayama T.2010
1791	exon 20	del SCN1A exon 20	del SCN1A	DIIIS3-S4	Partial gene deletion		SMEB	De novo	L?fgren A.2010(unpublished)
1791	exon 20	del SCN1A exon 20	del SCN1A	DIIIS3-S4	Partial gene deletion		SMEB	De novo	L?fgren A.2010(unpublished)
1792	exon 20-26	del SCN1A exon 20-26	del SCN1A		Partial gene deletion		SMEI	De novo	Wang JW.2008
1793	exon 21	del SCN1A IVS20+1195_IVS21+346del(6499bp)insTATT	del SCN1A		Partial gene deletion		SMEI	De novo	Mulley JC. 2006
									Marini C.2009
									Marini C.2009
1794	exon 21	del SCN1A exon 21	del SCN1A		Partial gene deletion		SMEI	De novo	Zuberi SM.2011
1795	exon 21-26	del SCN1A exon 21-26	del SCN1A		Partial gene deletion		SMEI	De novo	Mulley JC. 2006
							SMEI	De novo	Marini C.2009
							SME	NA	Rodda JM.2012
1796	exon 22-23	del SCN1A exon 22-23	del SCN1A		Partial gene deletion		SMEI	De novo	Sun H.2010
1797	exon 22-26	del SCN1A exon 22-26	del SCN1A		Partial gene deletion		SMEI	De novo	Depienne C.2009
1798	exon 24	del SCN1A exon 24	del SCN1A	DIII-DIV	Partial gene deletion		SMEI	NA	Depienne C.2009
1799		del SCN1A (588 kb)	del SCN1A		Whole gene deletion		SME	De novo	Marini C.2009
1800		del SCN1A (607 kb)	del SCN1A		Whole gene deletion		SMEI	De novo	Madia F.2006

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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.