SCN1A mutation database!

SCN1A mutations list 31/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1501	26	c.5018T>A	p.Ile1673Asn	DIV S5	Missense	N→P/O (149)	SMEI	NA	Cetica V.2017
1502	26	c.5019G>A	p.Gly1674Ser	DIV S5	Missense	N→P/O (56)	FS+HHE+AESD	Maternal (AESD)	Saitoh M.2015
1503	26	c.5020G>C	p.Gly1674Arg	DIVS5	Missense	N→P/﹢(125); LOF	SMEI	De novo	Ohmori I.2002
1504	26	c.5020_5025delGGCCTC	p.Gly1674_Leu1675del	DIVS5	In-frame deletion	ND	Ep and/or NDD	NA	Lindy AS.2018
1505	26	c.5020G>A	p.Gly1674Ser	DIV S5	Missense	N→P/O (56)	Acute encephalopathy with biphasic seizures & late reduced diffusion	NA	Saitoh M.2015
1506	26	c.5024T>G	p.Gly1674Arg	DIVS5	Missense	N→P/﹢(102)	SMEI	De novo	Depienne C.2009
1507	26	c.5024T>C	p.Leu1675Pro	DIV S5	Missense	N→N (98)	SMEI	De novo	Yang X.2017
1508	26	c.5027T>A	p.Leu1676Gln	DIVS5	Missense	N→P/O (113)	SMEB	De novo	L?fgren A.2010(unpublished)
1509	26	c.5029C>T	p.Leu1677Phe	DIVS5	Missense	N→N (22)	SMEI	De novo	Depienne C.2009
							SMEI	NA	Lim BC.2011
							SMEI	De novo	Wang JW.2012
1510	26	c.5040delC	p.Met1681CysfsX34	DIVS5	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1511	26	c.5040_5041insAA	p.Met1681LysfsX35	DIVS5	Frameshift	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
1512	26	c.5043_5045dupGTT	p.Phe1682LeufsX330	DIVS5	Frameshift	Haploinsufficiency	SMEI	NA	Wang JW.2012
1513	26	c.5045T>C	p.Phe1682Ser	DIVS5	Missense	N→P/O(155)	SMEI	Familial(Paternal,FS),P=2/2	Fukuma G.2004
1514	26	c.5047A>T	p.Ile1683Phe	DIVS5	Missense	N→N (21)	Unclassified	Familial(Maternal)	Zuberi SM.2011
1515	26	c.5048T>C	p.Ile1683Thr	DIVS5	Missense	N→P/O (89)	SMEI	NA	Zuberi SM.2011
							SMEB	De novo	Wang JW.2012
							SME	NA	Lee HF.2014
1516	26	c.5050T>G	p.Tyr1684Asp	DIVS5	Missense	P/O→P/﹣(160)	SMEI	NA	Zuberi SM.2011
1517	26	c.5051A>C	p.Tyr1684Ser	DIVS5	Missense	P/O→P/O (144)	IE	NA	Wang JW.2012
1518	26	c.5052C>A	p.Tyr1684X	DIVS5	Nonsense	Haploinsufficiency	SMEB	De novo	Zuberi SM.2011
1519	26	c.5054C>A	p.Ala1685Asp	DIVS5	Missense	N→P/﹣(126); LOF	SMEI	De novo	Fujiwara T.2003
1520	26	c.5054C>T	p.Ala1685Val	DIVS5	Missense	N→N (64); pLOF	PEFS+	Familial(Paternal,PEFS+),P=5/5	Sugawara T.2001
1520	26	c.5054C>T	p.Ala1685Val	DIVS5	Missense	N→N (64); pLOF	FS	NA	Ito M.2002
1521	26	c.5060T>C	p.Phe1687Ser	DIVS5	Missense	N→P/O(155)	MAE,GEFS+	Familial	Marini C.2007
1521	26	c.5060T>C	p.Phe1687Ser	DIVS5	Missense	N→P/O(155)	SMEI	NA	Cetica V.2017
1522	26	c.5062G>T	p.Gly1688Trp	DIVS5	Missense	N→N (184)	SMEI	De novo	Zuberi SM.2011
1523	26	c.5063G>T	p.Gly1688Val	DIV S5	Missense	N→N (109)	SMEI	NA	Xu X.2015
1524	26	c.5066T>G	p.Met1689Arg	DIV S5	Missense	N→P/﹢(91)	SMEI	NA	Ishii A.2017
1525	26	c.5068_5069delTCinsG	p.Ser1690AlafsX25	DIVS5	Frameshift	Haploinsufficiency	SMEI	NA	Ream MA.2014
1526	26	c.5075T>C	p.Phe1692Ser	DIVS5	Missense	N→P/O(155)	SMEI	De novo	Wang JW.2012
1527	26	c.5081_5082dupAT	p.Tyr1694TyrfsX22	DIVS5	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
1528	26	c.5081A>G	p.Tyr1694Cys	DIVS5	Missense	P/O→N (194)	SMEI	De novo	Fukuma G.2004
							SMEI	NA	Wang JW.2012
							SMEI	NA	Cetica V.2017
1529	26	c.5082T>G	p.Tyr1694X	DIV S5	Nonsense	Haploinsufficiency	SMEI	NA	Xu X.2015
1530	26	c.5083delG	p.Val1695LeufsX20	DIVS5	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
1531	26	c.5086_5087delAA	p.Lys1696GlufsX6	DIVS5	Frameshift	Haploinsufficiency	SMEI	De novo	Orrico A.2009
1532	26	c.5092_5095dupGAAG	p.Val1699GlyfsX6	DIVS5	Frameshift	Haploinsufficiency	IE	NA	Wang JW.2012
1533	26	c.5100dupG	p.Ile1701AspfsX3	DIVS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
1534	26	c.5104G>C	p.Asp1702His	DIVS5-S6	Missense	P/﹣→P/﹢ (81)	SMEI	NA	Cetica V.2017
1535	26	c.5104G>T	p.Asp1702Tyr	DIVS5-S6	Missense	P/﹣→P/O (160)	Ep and/or NDD	NA	Lindy AS.2018
1536	26	c.5106T>A	p.Asp1702Glu	DIVS5-S6	Missense	P/﹣→P/﹣(45)	SME	NA	Xu X.2014
1537	26	c.5107G>T	p.Asp1703Tyr	DIVS5-S6	Missense	P/﹣→P/O (160)	SMEI	NA	Ishii A.2017
1538	26	c.5108A>T	p.Asp1703Val	DIVS5-S6	Missense	P/﹣→N (152)	SME	NA	Xu X.2014
1539	26	c.5119T>G	p.Phe1707Val	DIVS5-S6	Missense	N→N (50)	SMEI	NA	Harkin LA.2007
1539	26	c.5119T>G	p.Phe1707Val	DIVS5-S6	Missense	N→N (50)	SMEI	NA	Rodda JM.2012
1540	26	c.5121T>A	p.Phe1707Leu	DIVS5-S6	Missense	N→N (22)	Ep and/or NDD	NA	Lindy AS.2018
1541	26	c.5125A>C	p.Thr1709Pro	DIVS5-S6	Missense	P/O→N (38)	SMEI	NA	Haginoya K.2018
1542	26	c.5126C>T	p.Thr1709Ile	DIVS5-S6	Missense	P/O→N (89); LOF	ICEGTC	Familial(Maternal,GEFS+),P=2/2	Fujiwara T.2003
1543	26	c.5126C>A	p.Thr1709Asn	DIVS5-S6	Missense	P/O→P/O (65)	SMEI	NA	Cetica V.2017
1544	26	c.5131G>A	p.Gly1711Ser	DIVS5-S6	Missense	N→P/O (56)	Ep and/or NDD	NA	Lindy AS.2018
1545	26	c.5136C>G	p.Asn1712Lys	DIVS5-S6	Missense	P/O→P/﹢ (94)	SMEI	NA	Ishii A.2017
1546	26	c.5138G>A	p.Ser1713Asn	DIVS5-S6	Missense	P/O→P/O(46)	SMEI	Familial(Paternal,FS),P=3/3	Kimura K.2005
1547	26	c.5138C>A	p.Ala1713Asp	DIVS5-S6	Missense	N→P/﹣(126)	SMEI	De novo	Liu J.2018
1548	26	c.5140A>G	p.Met1714Val	DIVS5-S6	Missense	N→N (21)	GEFS+2	Familial	Tsai MH.2018
1548	26	c.5140A>G	p.Met1714Val	DIVS5-S6	Missense	N→N (21)	GEFS+	Maternal	Tsai MH.2018
1549	26	c.5141T>G	p.Met1714Arg	DIVS5-S6	Missense	N→P/﹢(91)	SMEI	De novo	Mancardi MM.2006
1549	26	c.5141T>G	p.Met1714Arg	DIVS5-S6	Missense	N→P/﹢(91)	SMEI	NA	Zuberi SM.2011
1550	26	c.5141T>A	p.Met1714Lys	DIVS5-S6	Missense	N→P/﹢(95)	SMEI	NA	Depienne C.2009

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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.