SCN1A mutation database!

SCN1A mutations list 35/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1701	26	c.5597A>G	p.Asp1866Gly	C-terminal	Missense	P/﹣→N (94)	SMEI	NA	Ishii A.2017
1702	26	c.5599dupA	p.Ile1867AsnfsX78	C-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Depienne C.2009
1703	26	c.5600T>C	p.Ile1867Thr	C-terminal	Missense	N→P/O (89)	PEFS+	Familial(NA),P=5/6	Hindocha N.2008
							GEFS+	NA	Zuberi SM.2011
							Epilepsy and/or NDD	NA	Lindy AS.2018
1704	26	c.5600delT	p.Ile1867ThrfsX10	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1705	26	NA	p.Thr1872fsX	C-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Rilstone JJ.2012
1706	26	c.5620_5627delCGGGTTCT	p.Val1875ArgfsX67	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Marini C.2007
1707	26	c.5627T>C	p.Leu1876Pro	C-terminal	Missense	N→N (98)	SMEI	NA	L?fgren A.2010(unpublished)
1707	26	c.5627T>C	p.Leu1876Pro	C-terminal	Missense	N→N (98)	Epilepsy and/or NDD	NA	Lindy AS.2018
1708	26	c.5629dupT	p.Asp1876X	C-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
1709	26	c.5630G>T	p.Gly1877Val	C-terminal	Missense	N→N (109)	GEFS+	NA	Kim J.2017
1710	26	c.5635_5636dupAG	p.Ser1879fsX31	C-terminal	Frameshift	Haploinsufficiency	SME	De novo	Verbeek NE.2013
1711	26	c.5639G>A	p.Gly1880Glu	C-terminal	Missense	N→P/﹣(98)	SMEI	NA	Zuberi SM.2011
1711	26	c.5639G>A	p.Gly1880Glu	C-terminal	Missense	N→P/﹣(98)	NA	NA	L?fgren A.2010(unpublished)
1712	26	c.5640_5645delAGAGATinsCTAGAGTA	p.Glu1881X	C-terminal	Frameshift	Haploinsufficiency	SMEB	NA	Ohmori I.2002
1713	26	c.5641G>A	p.Glu1881Lys	C-terminal	Missense	P/﹣→P/﹢(56)	SMEI	NA	Petrelli C.2012
1714	26	c.5641G>T	p.Glu1881X	C-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1714	26	c.5641G>T	p.Glu1881X	C-terminal	Nonsense	Haploinsufficiency	SMEB	NA	Villeneuve N.2014
1715	26	c.5643G>C	p.Glu1881Asp	C-terminal	Missense	P/﹣→P/﹣(45)	SMEI	De novo	Wallace RH.2003
1715	26	c.5643G>C	p.Glu1881Asp	C-terminal	Missense	P/﹣→P/﹣(45)	SME	NA	Rodda JM.2012
1716	26	c.5656C>T	p.Arg1886X	C-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
							SMEI	De novo	Harkin LA.2007
							SMEI	D1e novo;1NA	Depienne C.2009
							SME	NA	Xu X.2014
							SMEB	NA	Villeneuve N.2014
							SME	De novo	Djemie T.2016
							Epilepsy and/or NDD	NA	Lindy AS.2018
1717	26	c.5657delG	p.Arg1886GlnfsX25	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Nabbout R.2003
1718	26	c.5657G>A	p.Arg1886Gln	C-terminal	Missense	P/﹢→P/﹣ (43)	SME	NA	Moehring J.2013
1719	26	c.5662C>T	p.Gln1888X	C-terminal	Nonsense	Haploinsufficiency	NA	NA	L?fgren A.2010(unpublished)
1720	26	c.5668delG	p.Glu1890LysfsX21	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Nabbout R.2003
1721	26	c.5673_5676dupGCGA	p.Phe1893AlafsX53	C-terminal	Frameshift	Haploinsufficiency	SME	NA	Villeneuve N.2014
1722	26	c.5674C>T	p.Arg1892X	C-terminal	Nonsense	Haploinsufficiency;pLOF	SMEI	NA	Sugawara T.2002
							SMEI	De novo;NA	Fukuma G.2004
							SMEI	De novo	Mancardi MM.2006
							SMEB-O	De novo	Harkin LA.2007
							SMEI-HHE	NA	Sakakibara T.2009
							SMEI	NA	Zuberi SM.2011
							SMEI	De novo	Nicita F.2010
							SMEI	De novo	Wang JW.2012
							SMEI	NA	Wang JW.2012
							SMEI	NA	Wang JW.2012
							SMEI	NA	Wang JW.2012
							Epilepsy and/or NDD	NA	Lindy AS.2018
1723	26	c.5674C>G	p.Arg1892Gly	C-terminal	Missense	P/﹢→N (125)	Epilepsy, focal	NA	Afawi Z.2016
1724	26	c.5681C>T	p.Pro1894Leu	C-terminal	Missense	N→N (98)	EP+ASD	De novo	O'Roak BJ. 2011
1725	26	c.5693delC	p.Pro1898LeufsX13	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Zhou P.2018
1726	26	c.5710C>T	p.Gln1904X	C-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Harkin LA.2007
1726	26	c.5710C>T	p.Gln1904X	C-terminal	Nonsense	Haploinsufficiency	Epilepsy and/or NDD	NA	Lindy AS.2018
1727	26	c.5708_5711dupATCA	p.Gln1904fsX42	C-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Sugawara T.2002
1728	26	c.5714C>T	p.Pro1905Leu	C-terminal	Missense	N→N (98)	ASD	NA	O\'Roak BJ. 2011
1728	26	c.5714C>T	p.Pro1905Leu	C-terminal	Missense	N→N (98)	ASD	NA	Iossifov I.2014
1729	26	c.5714delC	p.Pro1905GlnfsX6	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Yang X.2017
1730	26	c.5720delC	p.Thr1907fsX4	C-terminal	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
1731	26	c.5725_5727delACT	p.Thr1909del	C-terminal	In-frame deletion	ND	SMEI	De novo	Zuberi SM.2011
1732	26	c.5725A>G	p.Thr1909Ala	C-terminal	Missense	P/O→N (58)	SMEI	NA	Cetica V.2017
1733	26	c.5726C>T	p.Thr1909Ile	C-terminal	Missense	P/O→N (89); G-LOF	SMEI	NA	Ohmori I.2002
1734	26	c.5733_5734delAC	p.Arg1912LysfsX32	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
1735	26	c.5734C>T	p.Arg1912X	C-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Fukuma G.2004
							SMEI	Familial(Paternal,mosaic,asympt),P=1/1	Depienne C.2009,2010
							SMEI	De novo	Depienne C.2009,2010
							SMEI	NA	Ozmen M.2011
							SMEI	De novo	Reyes IS.2011
							SMEI	NA	Wang JW.2012
							SMEB	NA	Wang JW.2012
1736	26	c.5737A>T	p.Lys1913X	C-terminal	Nonsense	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1737	26	c.5740_5742del	p.1914_1914del	C-terminal	In-frame deletion	ND	SMEI	De novo	Liu J.2018
1738	26	c.5740_5742delCAA	p.Gln1914del	C-terminal	In-frame deletion	ND	Pediatric refractory epilepsy	De novo	Liu J.2018
1739	26	c.5741_5742delAA	p.Gln1914ArgfsX30	C-terminal	Frameshift	Haploinsufficiency	ICEGTC	De novo	Harkin LA.2007
1740	26	c.5743G>T	p.Glu1915X	C-terminal	Frameshift	Haploinsufficiency	SMEB	NA	Villeneuve N.2014
1741	26	c.5743G>A	p.Glu1915Lys	C-terminal	Missense	P/﹣→P/﹢ (56)	Ep and/or NDD	NA	Lindy AS.2018
1742	26	c.5744_5748delAGGAA	p.Glu1915GlyfsX28	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Ream MA.2014
1742	26	c.5744_5748delAGGAA	p.Glu1915GlyfsX28	C-terminal	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1743	26	c.5746delG	p.Glu1916LysfsX16	C-terminal	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1744	26	c.5746G>T	p.Glu1916X	C-terminal	Nonsense	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1745	26	c.5752T>A	p.Ser1918Thr	C-terminal	Missense	P/O→P/O (58)	GEFS+	Familial(Maternal)	L?fgren A.2010(unpublished)
1746	26	c.5753C>T	p.Ser1918Phe	C-terminal	Missense	P/O→N (155)	Ep and/or NDD	NA	Lindy AS.2018
1747	26	c.5765T>C	p.Ile1922Thr	C-terminal	Missense	N→P/O (89)	SMEI	NA	Harkin LA.2007
							Epilepsy and/or NDD	NA	Lindy AS.2018
							SMEI	NA	Mulley JC.2013
1748	26	c.5768A>G	p.Gln1923Arg	C-terminal	Missense	P/﹣→P/﹢ (43)	PEFS+	Familial(Paternal,mosaic,FS),P=3/3	Shi YW.2012
							Epilepsy and/or NDD	NA	Lindy AS.2018
							PEFS+	NA	Jiao J.2013
							PEFS+	NA	Liu J.2016
1749	26	c.5771delG	p.Arg1924LeufsX8	C-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Djemie T.2016
1750	26	c.5773G>A	p.Ala1925Thr	C-terminal	Missense	N→P/O (58)	FS+	NA	Moller RS.2016

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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.