SCN1A mutation database!

SCN1A mutations list 30/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1451	26	c.4916G>C	p.Arg1639Pro	DIVS4	Missense	P/﹢→N (102)	Ep and/or NDD	NA	Lindy AS.2018
1452	26	c.4921G>A	p.Ala1641Thr	DIVS4	Missense	N→P/O (58)	SMEI	maternal,MOSAIC	Yang X.2017
1453	26	c.4925G>T	p.Arg1642Met	DIVS4	Missense	P/﹢→N (91)	SME	NA	Lee HF.2014
1454	26	c.4926G>C	p.Arg1642Ser	DIVS4	Missense	P/﹢→P/O (110)	SMEI	De novo	Wang JW.2012
1454	26	c.4926G>C	p.Arg1642Ser	DIVS4	Missense	P/﹢→P/O (110)	SMEI	NA	Kosmicki JA.2017
1455	26	c.4926delG	p.Ile1643LeufsX7	DIVS4	Frameshift	Haploinsufficiency	SME	De novo	Gaily E.2013
1456	26	c.4926G>T	p.Arg1642Ser	DIVS4	Missense	P/﹢→P/O (110)	Ep and/or NDD	NA	Lindy AS.2018
1457	26	c.4931G>A	p.Gly1644Asp	DIVS4	Missense	N→P/﹣(94)	Ep and/or NDD	NA	Lindy AS.2018
1458	26	c.4933C>T	p.Arg1645X	DIVS4	Nonsense	Haploinsufficiency	SMEI	De novo	Fukuma G.2004
							SMEI	De novo	Harkin LA.2007
							SMEB	NA	Marini C.2007
							SMEI	De novo	G?kben S.2009
							SMEI	NA	Zuberi SM.2011
							SMEI	De novo	Wang JW.2012
							SMEI	NA	Cho MJ.2018
1459	26	c.4934G>A	p.Arg1645Gln	DIVS4	Missense	P/﹢→P/O (43)	SMEI	De novo	Harkin LA.2007
							SMEI	De novo	Bolszak M.2009
							Epilepsy and/or NDD	NA	Lindy AS.2018
							SMEI	NA	Parrini E.2017
							Epilepsy and/or NDD	NA	Lindy AS.2018
							EO-ABS	De novo	Oates S.2018
1460	26	c.4934G>C	p.Arg1645Pro	DIVS4	Missense	P/﹢→N (102)	SMEI	NA	Xu X.2015
1461	26	c.4942C>T	p.Arg1648Cys	DIVS4	Missense	P/﹢→N (180); G-LOF	SMEI	NA	Ohmori I.2002
							SMEI	NA	Orrico A.2009
							SMEI	2NA	Zuberi SM.2011
1462	26	c.4943G>A	p.Arg1648His	DIVS4	Missense	P/﹢→P/﹢(29); G-LOF	GEFS+	Familial(NA),P=5/5	Escayg A.2000
1462	26	c.4943G>A	p.Arg1648His	DIVS4	Missense	P/﹢→P/﹢(29); G-LOF	SMEI	Familial(Paternal)	Depienne C.2009
1463	26	c.4943G>T	p.Arg1648Leu	DIVS4	Missense	P/﹢→N (102)	Ep and/or NDD	NA	Lindy AS.2018
1464	26	c.4946T>A	p.Leu1649Gln	DIVS4	Missense	N→P/O (113); LOF	FHM	Familial(Paternal,FHM), p=6/6	Vanmolkot KR.2007
1465	26	c.4949dupT	p.Lys1651GlnfsX22	DIVS4	Frameshift	Haploinsufficiency	SMEB-M	De novo	Harkin LA.2007
1466	26	c.4954G>T	p.Gly1652X	DIVS4	Nonsense	Haploinsufficiency	SMEI	NA	Depienne C.2009
1467	26	c.4958C>A	p.Ala1653Glu	DIVS4	Missense	N→P/﹣(107)	SMEB	NA	Zuberi SM.2011
1468	26	c.4967T>G	p.Ile1656Ser	DIVS4	Missense	N→P/O (142); LOF	SMEI	De novo	Usluer S.2016
1469	26	c.4968C>G	p.Ile1656Met	DIVS4	Missense	N→N (10); DE	GEFS+	Familial(Maternal,FS+),P=4/4	Wallace RH.2001
1470	26	c.4969C>T	p.Arg1657Cys	DIVS4	Missense	P/﹢→N (180); G-LOF	SMEI	Familial(Maternal,FS),P=4/4	Lossin C.2003
1471	26	c.4970G>A	p.Arg1657His	DIVS4	Missense	P/﹢→P/﹢(29)	CFE(FS)	De novo	Harkin LA.2007
1471	26	c.4970G>A	p.Arg1657His	DIVS4	Missense	P/﹢→P/﹢(29)	GEFS+	De novo	Catarino CB.2011
1472	26	c.4973C>G	p.Thr1658Arg	DIVS4-S5	Missense	P/O→P/﹢(71)	SMEB	De novo	Marini C.2007
1472	26	c.4973C>G	p.Thr1658Arg	DIVS4-S5	Missense	P/O→P/﹢(71)	SMEI	Familial(Maternal)	Depienne C.2009
1473	26	c.4973C>T	p.Thr1658Met	DIVS4-S5	Missense	P/O→→N (81)	SMEI	Familial(Maternal)	Depienne C.2009
1473	26	c.4973C>T	p.Thr1658Met	DIVS4-S5	Missense	P/O→→N (81)	SME	Familial(Maternal,FS),P=2/2	Xu XJ.2012b
1474	26	c.4975C>A	p.Leu1659Met	DIVS4-S5	Missense	N→N (15)	SMEI	NA	Cetica V.2017
1475	26	c.4979T>C	p.Leu1660Pro	DIVS4-S5	Missense	N→N (98)	SMEI	NA	Zuberi SM.2011
							SMEI	1De novo;1NA	L?fgren A.2010(unpublished)
							SME	NA	Rodda JM.2012
							Epilepsy and/or NDD	NA	Lindy AS.2018
1476	26	c.4981C>T	p.Phe1661Leu	DIVS4-S5	Missense	N→N (22)	FHM	Familial (Maternal,FHM),P=5/5	Weller CM.2014
1477	26	c.4982T>C	p.Phe1661Ser	DIVS4-S5	Missense	N→P/O(155); G-LOF	SMEI	De novo	Claes L.2003
1478	26	c.4985C>T	p.Ala1662Val	DIVS4-S5	Missense	N→N (64)	SMEB	NA	Wang JW.2012
1479	26	c.4989delGinsCC	p.Leu1663PhefsX10	DIVS4-S5	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
1480	26	c.4991T>A	p.Met1664Lys	DIVS4-S5	Missense	N→P/﹢(95)	SMEI	Familial(Maternal,FS),P=4/4	Depienne C.2009
1480	26	c.4991T>A	p.Met1664Lys	DIVS4-S5	Missense	N→P/﹢(95)	SMEI	NA	Bechi G.2015
1481	26	c.4993_4995del	p.Met1665del	DIVS4-S5	In-frame deletion	ND	NA	NA	L?fgren A.2010(unpublished)
1482	26	c.4993_4996dupATGT	p.Ser1666fsX7	DIVS4-S5	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
1483	26	c.4995_4996insATT	p.Met1665_Ser1666insIle	DIVS4-S5	In-frame insertion	ND	SMEI	De novo	Yang X.2017
1484	26	c.4995G>A	p.Met1665Ile	DIVS4-S5	Missense	N→N (10)	Ep and/or NDD	NA	Lindy AS.2018
1485	26	c.4997C>T	p.Ser1666Phe	DIVS4-S5	Missense	P/O→N (155)	SMEI	NA	Xu X.2015
1486	26	c.5000T>C	p.Leu1667Pro	DIVS4-S5	Missense	N→N (98)	SMEI	De novo	Zuberi SM.2011
							SMEI	De novo	Wang JW.2012
							Epilepsy and/or NDD	NA	Lindy AS.2018
1487	26	c.5002C>G	p.Pro1668Ala	DIVS4-S5	Missense	N→N (27)	SMEI	Familial(Maternal,asympt),P=2/3	Nabbout R.2003
1488	26	c.5003C>G	p.Pro1668Arg	DIVS4-S5	Missense	N→P/﹢(103)	SME	Familial(Maternal, mosaic, FS),P=1/1	Huang AY.2014
1489	26	c.5003delC	p.Pro1668fsX12	DIVS4-S5	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
1490	26	c.5003C>T	p.Pro1668Leu	DIVS4-S5	Missense	N→N (98)	SMEB	NA	Zuberi SM.2011
1491	26	c.5005G>A	p.Ala1669Thr	DIVS4-S5	Missense	N→P/O (58)	Developmental delay, poor coordination, seizures	NA	Fry AE.2016
1492	26	c.5006C>A	p.Ala1669Glu	DIVS4-S5	Missense	N→P/﹣(107)	MMPSI	NA	Freilich ER.2011
1492	26	c.5006C>A	p.Ala1669Glu	DIVS4-S5	Missense	N→P/﹣(107)	Epilepsy and/or NDD	NA	Lindy AS.2018
1493	26	c.5008_5011delTGTT	p.Phe1671fsX8	DIVS5	Frameshift	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
1494	26	c.5009T>G	p.Leu1670Trp	DIVS4-S5	Missense	N→N (61)	HM3	Familial.Maternal),P=5/5	Zhang Y.2017
							HM3	NA	Bertelli S.2019
							HM3	Familial.Paternal),P=3/3	Dhifallah S.2018
1495	26	c.5010delG	p.Leu1670PhefsX10	DIVS4-S5	Frameshift	Haploinsufficiency	NA	De novo	L?fgren A.2010(unpublished)
1496	26	c.5010_5013delGTTT	p.Phe1671ThrfsX8	DIVS4-S5	Frameshift	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
							SMEI	De novo	Claes L.2001
							SMEI	NA	Sugawara T.2002
							SMEI	De novo	Depienne C.2009
							Epilepsy and/or NDD	NA	Lindy AS.2018
1497	26	c.5014A>C	p.Asn1672His	DIVS4-S5	Missense	P/O→P/﹢(68)	SME	NA	Xu X.2014
1498	26	c.5015A>T	p.Asn1672Ile	DIVS4-S5	Missense	P/O→N (149)	SMEI	NA	Zuberi SM.2011
1499	26	c.5018T>C	p.Ile1673Thr	DIVS4-S5	Missense	N→P/O (89)	SMEI	NA	Zuberi SM.2011
1500	26	c.5018T>G	p.Ile1673Thr	DIV S5	Missense	N→P/O (89)	GEFS+	NA	Skjei KL.2015

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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.