SCN1A mutation database!

SCN1A mutations list 32/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1551	26	c.5146T>C	p.Cys1716Arg	DIVS5-S6	Missense	N→P/﹢ (180)	SMEB	De novo	Marini C.2007
1551	26	c.5146T>C	p.Cys1716Arg	DIVS5-S6	Missense	N→P/﹢ (180)	Epilepsy and/or NDD	NA	Lindy AS.2018
1552	26	c.5150T>C	p.Leu1717Pro	DIVS5-S6	Missense	N→N (98)	SME	De novo	Verbeek NE.2013
1553	26	c.5162C>G	p.Thr1721Arg	DIVS5-S6	Missense	P/O→P/﹢(71)	SMEI	De novo	Harkin LA.2007
1554	26	c.5162C>A	p.Thr1721Lys	DIVS5-S6	Missense	P/O→P/﹢ (78)	Ep and/or NDD	NA	Lindy AS.2018
1554	26	c.5162C>A	p.Thr1721Lys	DIVS5-S6	Missense	P/O→P/﹢ (78)	Seizures	NA	Retterer K.2016
1555	26	c.5163delC	p.Ile1722PhefsX46	DIVS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Ko A.2018
1556	26	c.5164A>G	p.Thr1722Ala	DIV S5-S6	Missense	P/O→N (58)	DS	De novo	Wu YW.2015
1557	26	c.5168C>T	p.Ser1723Phe	DIVS5-S6	Missense	P/O→N (155)	Ep and/or NDD	NA	Lindy AS.2018
1558	26	c.5170G>C	p.Ala1724Pro	DIVS5-S6	Missense	N→N (27)	IE	NA	Wang JW.2012
1559	26	c.5170G>A	p.Ala1724Thr	DIVS5-S6	Missense	N→P/O (58)	SMEI	NA	Ishii A.2017
1560	26	c.5171C>A	p.Ala1724Asp	DIVS5-S6	Missense	N→P/﹣(126)	SMEI	De novo	Liu J.2018
1561	26	c.5173G>T	p.Gly1725Cys	DIVS5-S6	Missense	N→N (159)	SMEI	De novo	Depienne C.2009
1562	26	c.5174G>T	p.Gly1725Val	DIVS5-S6	Missense	N→N (109)	SMEI	De novo	Yang X.2017
1563	26	c.5176T>C	p.Trp1726Arg	DIVS5-S6	Missense	N→P/﹢(101)	SMEI	De novo	Harkin LA.2007
1564	26	c.5178G>A	p.Trp1726X	DIVS5-S6	Nonsense	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
1565	26	c.5182_5198delGGATTGCTAGCACCCAT	p.Gly1728SerfsX4	DIVS5-S6	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1566	26	c.5180A>G	p.Asp1727Gly	DIVS5-S6	Missense	P/﹣→N (94)	SMEI	De novo	Wang JW.2012
1567	26	c.5186T>G	p.Leu1729Trp	DIVS5-S6	Missense	N→N (61)	SMEI	NA	Ishii A.2017
1568	26	c.5189T>C	p.Leu1730Pro	DIVS5-S6	Missense	N→N (98)	Ep and/or NDD	NA	Lindy AS.2018
1569	26	c.5191G>C	p.Ala1731Pro	DIVS5-S6	Missense	N→N (27)	SMEI	NA	Ishii A.2017
1570	26	c.5193delA	p.Ile1733PhefsX46	DIVS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	de Lange IM.2018
1571	26	c.5186dupT	p.Leu1729PhefsX9	DIVS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1572	26	c.5195C>T	p.Pro1732Leu	DIVS5-S6	Missense	N→N (98)	SMEI	De novo	Djemie T.2016
1573	26	c.5197A>G	p.Asn1733Asp	DIVS5-S6	Missense	P/O→P/﹣(23)	SMEI/GEFS+	NA	Tan EH.2012
1574	26	c.5201T>C	p.Leu1734Pro	DIVS5-S6	Missense	N→N (98)	Ep and/or NDD	NA	Lindy AS.2018
1575	26	c.5216C>T	p.Pro1739Leu	DIVS5-S6	Missense	N→N (98)	GEFS+,FS+	Familial(Paternal);NA	Zuberi SM.2011
1576	26	c.5218G>A	p.Asp1740Asn	DIVS5-S6	Missense	P/﹣→P/O (23)	FS+/FS+ and focal seizures	NA	Zhang Y.2017
1576	26	c.5218G>A	p.Asp1740Asn	DIVS5-S6	Missense	P/﹣→P/O (23)	Ep and/or NDD	NA	Lindy AS.2018
1577	26	c.5221T>C	p.Cys1741Arg	DIVS5-S6	Missense	N→P/﹢ (180)	SMEI	De novo	Wang JW.2012
1578	26	c.5221T>A	p.Cys1741Ser	DIVS5-S6	Missense	N→P/O (112)	TLT-MTS	De novo	Tiefes AM.2019
1579	26	c.5222G>C	p.Cys1741Ser	DIVS5-S6	Missense	N→P/O(112)	LGS	De novo	Allen AS.2013
1580	26	c.5222G>A	p.Cys1741Tyr	DIVS5-S6	Missense	N→P/O (194)	SMEI	NA	Xu X.2015
1580	26	c.5222G>A	p.Cys1741Tyr	DIVS5-S6	Missense	N→P/O (194)	Ep and/or NDD	NA	Lindy AS.2018
1581	26	c.5224G>A	p.Asp1742Asn	DIVS5-S6	Missense	P/﹣→P/O (23)	Intellectual disability, autosomal recessive	NA	Harripaul R.2018
1582	26	c.5225C>G	p.Asp1742Gly	DIVS5-S6	Missense	P/﹣→N (94)	PEFS+	Familial(Paternal&Maternal,FS+),P=4/4	Pineda-Trujillo N.2005
1583	26	c.5225A>T	p.Asp1742Val	DIVS5-S6	Missense	P/﹣→N (152)	SMEI (late-onset)	De novo	Usluer S.2016
1584	26	c.5236G>T	p.Gly1746Trp	DIVS5-S6	Missense	N→N (184)	SMEI	NA	Esterhuizen AI.2018
1585	26	c.5239_5240dupAA	p.Asn1747LysfsX33	DIVS5-S6	Frameshift	Haploinsufficiency	SMEI	Familial(Maternal,mosaic,FS),P=2/2	Gennaro E.2006
1585	26	c.5239_5240dupAA	p.Asn1747LysfsX33	DIVS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
1586	26	c.5243C>G	p.Pro1748Arg	DIVS5-S6	Missense	N→P/﹢(103)	NA	Familial(Paternal)	L?fgren A.2010(unpublished)
1587	26	c.5246G>A	p.Gly1749Glu	DIVS5-S6	Missense	N→P/﹣(98); pLOF	SMEI	De novo	Claes L.2003
1588	26	c.5250_5252delCTCinsGG	p.Ser1750Argfsx29	DIVS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Sun H.2010
1589	26	c.5250_5251insGG	p.Ser1751GlyfsX29	DIVS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Xu X.2015
1590	26	c.5261G>T	p.Gly1754Val	DIVS5-S6	Missense	N→N (109)	Ep and/or NDD	NA	Lindy AS.2018
1591	26	c.5260G>A	p.Gly1754Arg	DIVS5-S6	Missense	N→P/﹢(125)	SMEI	De novo	Petrelli C.2012
1592	26	c.5264 A>G	p.Asp1755Gly	DIVS5-S6	Missense	P/﹣→N (94)	SME	NA	Xu X.2014
1593	25	c.5266T>C	p.Cys1756Arg	DIVS5-S6	Missense	N→P/﹢ (180)	SMEI	De novo	L?fgren A.2010(unpublished)
1594	26	c.5266T>G	p.Cys1756Gly	DIVS5-S6	Missense	N→N (159)	SMEB	NA	Herini ES.2010
1595	26	c.5269G>A	p.Gly1757Arg	DIVS5-S6	Missense	N→P/﹢ (125)	SMEI	De novo	Djemie T.2016
1596	26	c.5270G>A	p.Gly1757Glu	DIVS5-S6	Missense	N→P/﹣(98)	Ep and/or NDD	NA	Lindy AS.2018
1597	26	c.5273_5277delACCCA	p.Asn1758IlefsX35	DIVS5-S6	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1598	26	c.5284_5291dupGGAATTTT	p.Phe1764fsX17	DIVS6	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
1599	26	c.5285G>A	p.Gly1762Glu	DIVS6	Missense	N→P/﹣(98)	SMEI	De novo	Mancardi MM.2006
1600	26	c.5286A>C	p.Gly1762Gly	DIVS6	Synonymous	ND	PEFS+	Familial(Paternal,FS),P=2/2	Herini ES.2010

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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.