SCN1A mutation database!

SCN1A mutations list 6/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
251	6	c.777_780delCGTA	p.Val260LeufsX3	DIS5	Frameshift	Haploinsufficiency	NA	NA	Depienne C.2009
252	6	c.780dupA	p.Phe261IlefsX16	DIS5	Frameshift	Haploinsufficiency	SMEI	De novo	Yang X.2017
253	6	c.787C>G	p.Leu263Val	DIS5	Missense	N→N (32); GOF	FHM+EP	2Familial,P=5/5	Barros J.2014
							FHM+EP	Familial(Paternal, FHM+EP),P=5/5	Castro MJ.2009
							HM + Ep	NA	Kahlig KM.2008
254	6	c.787delC	p.Lys263X	DIS5	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
255	6	NA	p.Ile264fs	DIS5	Frameshift	Haploinsufficiency	SME	NA	Lee HF.2014
256	6	c.791T>C	p.Ile264Thr	DIS5	Missense	N→P/O (89)	Ep and/or NDD	NA	Lindy AS.2018
257	6	c.793G>T	p.Gly265Trp	DIS5	Missense	N→N (184)	SMEI	De novo	Fujiwara T.2003
258	6	c.799C>T	p.Gln267X	DIS5	Nonsense	Haploinsufficiency	SMEI	De novo	Wang JW.2012
259	6	c.811G>C	p.Gly271Arg	DIS5	Missense	N→P/﹢ (125)	SMEI	NA	Cetica V.2017
260	6	c.818T>A	p.Leu273Gln	DIS5	Missense	N→P/O (113)	SMEI	NA	Cho MJ.2018
261	6	c.818T>C	p.Leu273Pro	DIS5	Missense	N→N (98)	Ep and/or NDD	NA	Lindy AS.2018
262	6	c.825T>A	p.Asn275Lys	DIS5	Missense	P/O→P/﹢(94)	PEFS+	NA	Kim YO.2014
263	6	c.825_826insGTATA	p.Lys276ValfsX2	DIS5	Frameshift	Haploinsufficiency	SMEI	NA	Xu X.2015
264	6	c.826A>C	p.Lys276Gln	DIS5	Missense	P/﹢→P/O (53)	SMEI	NA	Xu X.2015
265	6	c.827A>T	p.Lys276Ile	DIS5	Missense	P/﹢→N (102)	Ep and/or NDD	NA	Lindy AS.2018
266	6	c.829T>C	p.Cys277Arg	DIS5	Missense	N→P/﹢(180)	SMEI	De novo	Depienne C.2009
267	6	c.829T>G	p.Cys277Gly	DIS5-S6	Missense	N→N (159)	SME	NA	P
268	6	c.835C>T	p.Gln279X	D1S5-S6	Nonsense	Haploinsufficiency	SMEB	2De novo	Zuberi SM.2011
269	6	c.838T>C	p.Trp280Arg	DIS5-S6	Missense	N→P/﹢(101)	SMEI	De novo	Nabbout R.2003
							SMEI	NA	Wang JW.2012
							SMEI	De novo	Liu J.2018
							SMEI	NA	Zhang C.2018
270	6	c.839T>C	p.Trp281Arg	DIS5-S6	Missense	N→P/﹢(101)	SME	NA	Xu X.2014
271	6	c.840G>T	p.Trp280Cys	DIS5-S6	Missense	N→N (215)	SMEI	De novo	Miyama S.2008
272	6	c.840G>C	p.Trp280Cys	DIS5-S6	Missense	N→N (215)	SME	NA	Villeneuve N.2014
273	6	c.841C>T	p.Pro281Ser	DIS5-S6	Missense	N→P/O (74)	SMEI	NA	Depienne C.2009
274	6	c.841C>G	p.Pro281Ala	DIS5-S6	Missense	N→N (27)	SMEI	NA	Wang JW.2012
275	6	c.842C>T	p.Pro281Leu	DIS5-S6	Missense	N→N (98)	SMEI	De novo	Depienne C.2009
							DS	NA	Gokben S.2017
							Epilepsy and/or NDD	NA	Lindy AS.2018
276	6	c.853_856delCTTC	p.Ser286TrpfsX6	DIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Nabbout R.2003
276	6	c.853_856delCTTC	p.Ser286TrpfsX6	DIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
277	6	c.865G>T	p.Glu289X	DIS5-S6	Nonsense	Haploinsufficiency	SMEI	Familial(Maternal,PE),P=2/2	Nabbout R.2003
277	6	c.865G>T	p.Glu289X	DIS5-S6	Nonsense	Haploinsufficiency	SMEI	De novo	Orrico A.2009
278	6	c.866A>T	p.Glu289Val	DIS5-S6	Missense	P/﹣→N (121)	SMEI	NA	Lemke JR.2012
279	6	c.869A>G	p.His290Arg	DIS5-S6	Missense	P/﹢→P/﹢(29)	IE	NA	Wang JW.2012
280	6	c.871A>G	p.Ser291Gly	DIS5-S6	Missense	P/O→N (56)	GEFS+	NA	Zuberi SM.2011
281	6	c.890C>T	p.Thr297Ile	DIS5-S6	Missense	P/O→N (89)	SMEI	Familial(Maternal,asympt),P=2/2	Nabbout R.2003
281	6	c.890C>T	p.Thr297Ile	DIS5-S6	Missense	P/O→N (89)	SMEI	NA	Binini N.2017
282	6	c.893_894delTG	p.Val298GlufsX3 V298EfsX3	DIS5-S6	Frameshift	Haploinsufficiency	SME	NA	Petrelli C.2012
282	6	c.893_894delTG	p.Val298GlufsX3 V298EfsX3	DIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Zuberi SM.2011
283	6	c.896_905 delATTATAATGG	p.Asn299fsX3	DIS5-S6	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
284	6	c.917delA	p.Asn306MetfsX26	DIS5-S6	Frameshift	Haploinsufficiency	IE	NA	Wang JW.2012
285	6	c.930dupT	p.Phe310fsX1	DIS5-S6	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
286	6	c.930_931dupTG	p.Glu311ValfsX22	DIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Xu X.2015
287	6	c.931G>T	p.Glu311X	DIS5-S6	Nonsense	Haploinsufficiency	SMEI	De novo	Orrico A.2009
288	6	NA	p.Asp313fs	DIS5-S6	Frameshift	Haploinsufficiency	SME	NA	Lee HF.2014
289	6	c.935T>C	p.Phe312Ser	DIS5-S6	Missense	N→P/O (155)	SMEI	NA	Ishii A.2017
290	6	c.940T>C	p.Trp314Arg	DIS5-S6	Missense	N→P/﹢(101)	MAE	Familial(Maternal)	Zuberi SM.2011
291	6	c.940T>G	p.Trp314Gly	DIS5-S6	Missense	N→N (184)	GEFS+	NA	Afawi Z.2016
292	6	c.942delG	p.Trp314X	DIS5-S6	Nonsense	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
293	6	c.949T>C	p.Tyr317His	DIS5-S6	Missense	P/O→P/﹢(83)	SME	NA	Lee HF.2014
294	6	c.950A>G	p.Tyr317Cys	DIS5-S6	Missense	P/O→N (194)	SMEI	NA	Cetica V.2017
295	6	c.959_964+1delATTCAAG	p.Asp320_Arg322delinsGly	DIS5-S6	Splice donor site	ND	SME	De novo	Depienne C.2009
296	6	c.962C>G	p.Ser321X	DIS5-S6	Nonsense	Haploinsufficiency	SMEI	De novo	Depienne C.2009
297	IVS6	c.964+5G>A		DIS5-S6	Splice donor site	ND	Ep and/or NDD	NA	Lindy AS.2018
298	IVS6	c.964+14T>G		DIS5-S6	Splice donor site	ND	SMEI	NA	Xu X.2015
299	IVS6	c.965-2A>C		DIS5-S6	Splice acceptor site	ND	SMEI	Familial(Paternal,mosaic,asympt),P=2/2	Depienne C.2006
300	7	c.965G>T	p.Arg322Ile	DIS5-S6	Missense	P/﹢→N (97)	SMEI/SME	NA	Marini C.2007
300	7	c.965G>T	p.Arg322Ile	DIS5-S6	Missense	P/﹢→N (97)	SMEI/SME	NA	Depienne C.2009

1 2 3 4 5 6 7 8 ...

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.