SCN1A mutation database!

SCN1A mutations list 8/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
351	8	c.1072C>A	p.Pro358Thr	DIS5-S6	Missense	N→P/O (38)	SMEB	NA	Marini C.2007
351	8	c.1072C>A	p.Pro358Thr	DIS5-S6	Missense	N→P/O (38)	SME	NA	Xu X.2014
352	8	c.1072C>T	p.Pro358Ser	DIS5-S6	Missense	N→P/O (74)	SMEI	NA	Xu X.2014
353	8	c.1076A>G	p.Asn359Ser	DIS5-S6	Missense	P/O→P/O (46)	SMEI	De novo	Zuberi SM.2011
							SME	NA	Dhamija R.2014
							SME	NA	Xu X.2014
							DS	NA	Butler KM.2017
							Epilepsy and/or NDD	NA	Lindy AS.2018
354	8	c.1076delA	p.Asn359IlefsX20	DIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Wang JW.2012
355	8	c.1076A>T	p.Asn359Ile	DIS5-S6	Missense	P/O→N (149)	Ep and/or NDD	NA	Lindy AS.2018
356	8	c.1077T>A	p.Asn359Lys	DIS5-S6	Missense	P/O→P/﹢ (94)	SMEI	De novo	Yang X.2017
357	8	c.1087A>C	p.Thr363Pro	DIS5-S6	Missense	P/O→N (38)	SMEI	NA	Zuberi SM.2011
357	8	c.1087A>C	p.Thr363Pro	DIS5-S6	Missense	P/O→N (38)	Epilepsy and/or NDD	NA	Lindy AS.2018
358	8	c.1088C>G	p.Thr363Arg	DIS5-S6	Missense	P/O→P/﹢(71)	SMEI	NA	Zuberi SM.2011
358	8	c.1088C>G	p.Thr363Arg	DIS5-S6	Missense	P/O→P/﹢(71)	SMEI	NA	Le Gal F.2014
359	8	c.1090delA	p.Ser364AlafsX15	DIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
360	8	c.1092C>A	p.Ser364Arg	DIS5-S6	Missense	P/O→P/﹢(110)	NA	NA	L?fgren A.2010(unpublished)
361	8	c.1092delC	p.Phe365LeufsX14	DIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Yang X.2017
362	8	c.1094T>C	p.Phe365Ser	DIS5-S6	Missense	N→P/O (155)	SMEI	De novo	L?fgren A.2010(unpublished)
363	8	c.1095dupT	p.Asp366X	DIS5-S6	Nonsense	Haploinsufficiency	SMEI	De novo	Depienne C.2009
364	8	c.1096_1115del20	p.Asp366fsX76	DIS5-S6	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
365	8	c.1098T>A	p.Asp366Glu	DIS5-S6	Missense	P/﹣→P/﹣(45)	SMEI	De novo	Zucca C.2008
366	8	c.1112C>T	p.Ala371Val	DIS5-S6	Missense	N→N (64)	Ep and/or NDD	NA	Lindy AS.2018
367	8	c.1118dupT	p.Leu373PhefsX77	DIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	L?fgren A.2010(unpublished)
368	8	c.1118delT	p.Leu373Cysfsx6	DIS5-S6	Frameshift	Haploinsufficiency	SMEI	Familial(Paternal,FS+),P=2/2	Xu XJ.2012a
369	8	c.1119delG	p.Leu373PhefsX6	DIS5-S6	Frameshift	Haploinsufficiency	PEFS+	NA	Kim YO.2014
370	8	c.1121delC	p.Ser374fsX5	DIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Nabbout R.2003
371	8	c.1121C>A	p.Ser374Tyr	DIS5-S6	Missense	P/O→P/O (144)	SMEI	De novo	Djemie T.2016
372	8	c.1125G>T	p.Leu375Phe	DIS5-S6	Missense	N→N (22)	SMEI	De novo	L?fgren A.2010(unpublished)
373	8	c.1125G>C	p.Leu375Phe	DIS5-S6	Missense	N→N (22)	EE (early infantile)	De novo	Wei CM.2018
374	8	c.1129C>T	p.Arg377X	DIS5-S6	Nonsense	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
							SMEI	De novo	Depienne C.2009
							SMEI	NA	Zuberi SM.2011
							SMEI	De novo	Wang JW.2012
							SME	De novo	Gaily E.2013
							SME	NA	Xu X.2014
							SME	Mother negative	Djemie T.2016
							SMEI	NA	Esterhuizen AI.2018
							Epilepsy and/or NDD	NA	Lindy AS.2018
375	8	c.1130G>T	p.Arg377Leu	DIS5-S6	Missense	P/﹢→N (102)	SME	NA	Hattori J.2008
376	8	c.1130G>A	p.Arg377Gln	DIS5-S6	Missense	P/﹢→P/O (43)	GEFS+	Familial(Maternal)	Zucca C.2008
							GEFS+	NA	Cetica V.2017
							Epilepsy and/or NDD	NA	Lindy AS.2018
							GEFS+	NA	Xu X.2015
377	8	c.1133T>A	p.Leu378Gln	DIS5-S6	Missense	N→P/O (113)	SMEI	NA	Depienne C.2009
378	8	c.1136T>G	p.Met379Arg	DIS5-S6	Missense	N→P/﹢(91)	SMEI	NA	Lemke JR.2012
379	8	c.1136T>A	p.Met379Lys	DIS5-S6	Missense	N→P/﹢ (95)	SMEI	NA	Xu X.2015
380	8	c.1138A>C	p.Thr380Pro	DIS5-S6	Missense	P/O→N (38)	NA	De novo	L?fgren A.2010(unpublished)
381	8	c.1139delC	p.Thr380IlefsX11	DIS5-S6	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
382	8	c.1143G>C	p.Gln381His	DIS5-S6	Missense	P/O→P/﹢(24)	NA	De novo	L?fgren A.2010(unpublished)
383	8	c.1144G>A	p.Asp382Asn	DIS5-S6	Missense	P/﹣→P/O (23)	Unclassified	De novo	Zuberi SM.2011
							Unclassified	NA	L?fgren A.2010(unpublished)
							SME	NA	Xu X.2014
384	8	c.1146C>A	p.Asp382Glu	DIS5-S6	Missense	P/﹣→P/﹣(45)	SMEI	NA	Xu X.2014
385	8	c.1149C>G	p.Phe383Asp	DIS5-S6	Missense	N→P/﹣(177)	SMEI	De novo	Mancardi MM.2006
386	8	c.1150T>C	p.Trp384Arg	DIS5-S6	Missense	N→P/﹢(101)	SMEI	De novo	Zuberi SM.2011
							SMEB	De novo	Wang JW.2012
							SMEI	NA	Wang JW.2012
							SME	De novo	Verbeek NE.2013
387	8	c.1151G>A	p.Trp384X	DIS5-S6	Nonsense	Haploinsufficiency	SMEI	NA	Surovy M.2016
388	8	c.1152G>A	p.Trp384X	DIS5-S6	Nonsense	Haploinsufficiency	SMEB-O	NA	Harkin LA.2007
389	8	c.1153G>A	p.Glu385Lys	DIS5-S6	Missense	P/﹣→P/﹢ (56)	Ep and/or NDD	NA	Lindy AS.2018
390	8	c.1154A>G	p.Glu385Gly	DIS5-S6	Missense	P/﹣→N (98)	SMEI	De novo	Petrelli C.2012
390	8	c.1154A>G	p.Glu385Gly	DIS5-S6	Missense	P/﹣→N (98)	SMEI	NA	Ko A.2018
391	8	c.1154A>T	p.Glu385Val	DIS5-S6	Missense	P/﹣→N (121)	SMEI	NA	Doccini S.2015
392	8	c.1156A>T	p.Glu385Asp	DIS5-S6	Missense	P/﹣→P/﹣(45)	DS	De novo	Wu YW.2015
393	8	c.1157dupA	p.Asn386LysfsX64	DIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Wang JW.2012
394	8	c.1162T>C	p.Tyr388His	DIS5-S6	Missense	P/O→P/﹢(83)	SMEI	Familial(Paternal,GEFS+),P=10/10	Mahoney K.2009
394	8	c.1162T>C	p.Tyr388His	DIS5-S6	Missense	P/O→P/﹢(83)	GEFS+	NA	Bennett CA.2017
395	8	c.1165C>T	p.Gln389X	DIS5-S6	Nonsense	Haploinsufficiency	SMEI	NA	Nabbout R.2003
396	IVS8	c.1170+1G>A		DIS5-S6	Splice donor site	ND	SMEI	De novo	Zucca C.2008
397	IVS8	c.1170+1G>T		DIS5-S6	Splice donor site	ND	SMEI	De novo	Petrelli C.2012
397	IVS8	c.1170+1G>T		DIS5-S6	Splice donor site	ND	SME	NA	Xu X.2014
398	IVS8	c.1170+2C>T		DIS5-S6	Splice donor site	ND	SMEI	De novo	Ceulemans BP.2004
399	IVS8	c.1170+3G>T		DIS5-S6	Splice donor site	ND	SMEI	De novo	L?fgren A.2010(unpublished)
399	IVS8	c.1170+3G>T		DIS5-S6	Splice donor site	ND	SMEI	De novo	Mahdieh N.2018
400	IVS8	c.1170+2T>C		DIS5-S6	Splice donor site	ND	SMEI	De novo	Mahdieh N.2018

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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.