SCN1A mutation database!

SCN1A mutations list 5/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
201	5	c.652T>C	p.Phe218Leu	DIS4	Missense	N→N (22)	PEFS+	Familial(Paternal,asympt),P=5/5	Livingston JH.2009
201	5	c.652T>C	p.Phe218Leu	DIS4	Missense	N→N (22)	GEFS+	Familial(Maternal, GEFS+)	Catarino CB.2011
202	5	c.655A>G	p.Arg219Gly	DIS4	Missense	P/﹢→N (125)	SMEI	De novo	Usluer S.2016
203	5	c.656G>C	p.Arg219Thr	DIS4	Missense	N→P/﹢(112)	Ep and/or NDD	NA	Lindy AS.2018
204	5	c.657_658delAG	p.Arg219SerfsX57	DIS4	Frameshift	Haploinsufficiency	SMEI	De novo	Claes L.2001
205	5	c.659_662delTTCT	p.Val220fsX4	DIS4	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
206	5	c.659T>A	p.Val220Asp	DIS4	Missense	N→P/﹣ (152)	MMPSI	NA	Zhang Y.2015
207	5	c.662T>C	p.Leu221Pro	DIS4	Missense	N→N (98)	Ep and/or NDD	NA	Lindy AS.2018
208	5	c.664C>T	p.Arg222X	DIS4	Nonsense	Haploinsufficiency; LOF	SMEI	De novo	Claes L.2001
							SMEI	1De novo;1NA	Nabbout R.2003
							SMEI	NA	Fukuma G.2004
							SMEI	De novo	Harkin LA.2007
							SMEI	De novo	Mancardi MM.2006
							SMEI	De novo	Depienne C.2009
							SMEI	De novo	Orrico A.2009
							SMEI/SMEB	2De novo;1NA	Zuberi SM.2011
							IE	NA	Wang JW.2012
							SMEI	De novo	Wang JW.2012
							SME	De novo	Lemke JR.2012
							SMEI	De novo	Wang JW.2012
							SME	NA	Lee HF.2014
							SME	NA	Xu X.2014
							SMEI	De novo	Esterhuizen AI.2018
							Epilepsy and/or NDD	NA	Lindy AS.2018
209	5	c.668C>A	p.Ala223Glu	DIS4	Missense	N→P/﹣(107)	SMEI	De novo	Depienne C.2009
210	5	c.671T>C	p.Leu224Ser	DIS4	Missense	N→P/O (145)	Ep and/or NDD	NA	Lindy AS.2018
211	5	c.675G>C	p.Lys225Asn	DIS4	Missense	P/﹢→P/O (94)	SME	NA	Lee HF.2014
							SME	NA	Xu X.2014
							Epilepsy and/or NDD	NA	Lindy AS.2018
212	5	c.677C>T	p.Thr226Met	D1S4	Missense	P/O→N (81)	SMEB-O	De novo	Harkin LA.2007
							CGE(No FS)	De novo	Harkin LA.2007
							SME	NA	Dhamija R.2014
							SME	De novo	Mulley JC.2013
							Epilepsy and/or NDD	NA	Lindy AS.2018
							SMEI	NA	Muona M.2015
213	5	c.677C>A	p.Thr226Lys	DIS4	Missense	P/O→P/﹢(78)	SME	NA	Catarino CB.2011
214	5	c.677C>G	p.Thr226Arg	DIS4	Missense	P/O→P/﹢(71)	SMEI	De novo	Wang JW.2012
214	5	c.677C>G	p.Thr226Arg	DIS4	Missense	P/O→P/﹢(71)	Epilepsy and/or NDD	NA	Lindy AS.2018
215	5	c.680T>C	p.Ile227Thr	DIS4	Missense	N→P/O (89)	SMEI	2De novo	Zuberi SM.2011
216	5	c.680T>G	p.Ile227Ser	DIS4	Missense	N→P/O (142); LOF	SMEI	2De novo; 1NA	Nabbout R.2003
							SMEB-SW	2De novo; 1NA	Nabbout R.2003
							SMEI	De novo	Mancardi MM.2006
							SMEI	De novo	Depienne C.2009
							SMEI	NA	Mak CM.2011
							SMEI	NA	Wang JW.2012
							Epilepsy and/or NDD	NA	Lindy AS.2018
217	5	c.682T>C	p.Ser228Pro	DIS4	Missense	P/O→N (74)	SMEI	NA	Parrini E.2017
218	5	c.693A>T	p.Pro231Pro	DIS4	Synonymous	ND	SMEI	De novo	Lemke JR.2012
219	5	c.694G>A	p.Gly232Ser	DIS4	Missense	N→P/O (56)	SMEI	NA	Depienne C.2009
219	5	c.694G>A	p.Gly232Ser	DIS4	Missense	N→P/O (56)	SMEI	NA	Zuberi SM.2011
220	IVS5	c.694+1G>A		DIS4	Splice donor site	ND	GEFS+	De novo	Orrico A.2009
221	IVS5	c.694+1G>C		DIS4	Splice donor site	ND	SMEI	De novo	Mancardi MM.2006
222	IVS5	c.694+2T>G		DIS4	Splice donor site	ND	SMEI	De novo	Depienne C.2009
222	IVS5	c.694+2T>G		DIS4	Splice donor site	ND	SMEI	NA	Wang JW.2012?fgrenA,2010
223	6	c.694+5G>C		DIS4	Splice donor site	ND	SMEI	NA	L?fgren A.2010(unpublished)
224	IVS5	c.694+1G>T		DIS4	Splice donor site	ND	SMEI	NA	Ishii A.2017
225	6	c.697_698delCT	p.Leu233GlufsX43	DIS4	Frameshift	Haploinsufficiency	SMEI	De novo	Petrelli C.2012
226	6	c.697_698delCTinsGG	p.Leu233Gly	DIS4	Missense	N→N (138)	Ep and/or NDD	NA	Lindy AS.2018
227	6	c.698T>G	p.Leu233Arg	DIS4	Missense	N→P/﹢(102)	SMEI	De novo	Zuberi SM.2011
228	6	c.704C>G	p.Thr235Ser	DIS4-S5	Missense	P/O→P/O (58); G-LOF	GEFS+	NA	Cetica V.2017
229	6	c.705delC	p.Ile236LeufsX5	DIS4-S5	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
230	6	c.706delA	p.Ile236LeufsX5	DIS4-S5	Frameshift	Haploinsufficiency	NA	NA	L?fgren A.2010(unpublished)
231	6	c.715G>A	p.Ala239Thr	D1S4-S5	Missense	N→P/O (58)	SMEB-SW	Familial(Paternal, FS+),P=2/2	Harkin LA.2007
							SMEI	De novo	Sun H.2008a
							SMEI	NA	Cetica V.2017
232	6	c.716C>T	p.Ala239Val	DIS4-S5	Missense	N→N (64)	SMEI	De novo	Iannetti P.2009
							SMEI	De novo	Nicita F.2010
							SME	NA	Xu X.2014
233	6	c.719T>C	p.Leu240Pro	D1S4-S5	Missense	N→N (98)	SMEI	De novo	Lin W.2010
234	6	c.728C>A	p.Ser243Tyr	DIS4-S5	Missense	P/O→P/O (144)	SMEI	De novo	Depienne C.2009
234	6	c.728C>A	p.Ser243Tyr	DIS4-S5	Missense	P/O→P/O (144)	SME	NA	Xu X.2014
235	6	c.728C>T	p.Ser243Phe	D1S4-S5	Missense	P/O→N (155)	SME	NA	Lee HF.2014
236	6	c.[730G>T(;) 735G>T(;) 736A>T]	p.[Val244Leu(;)Lys245Asn(;)Lys246X]	DIS4-S5	Missense	[N→N (32); P/﹢→P/O (94); Haploinsufficiency]	SMEI	Familial(Maternal,mosaic,asympt),P=2/2	Morimoto M.2006
236	6	c.[730G>T(;) 735G>T(;) 736A>T]	p.[Val244Leu(;)Lys245Asn(;)Lys246X]	DIS4-S5	Compound	[N→N (32); P/﹢→P/O (94); Haploinsufficiency]	SMEI	Familial(Maternal,mosaic,asympt),P=2/2	Morimoto M.2006
237	6	c.731_732delGT	p.Val244GlufsX32	DIS4-S5	Frameshift	Haploinsufficiency	SMEI	De novo	Marini C.2007
238	6	c.[735G>T(;) 730G>T(;) 736A>T]	p.[Lys245Asn(;)Val244Leu(;)Lys246X]	DIS4-S5	Missense	[P/﹢→P/O (94); N→N (32); Haploinsufficiency]	SMEI	Familial(Maternal,mosaic,asympt),P=2/2	Morimoto M.2006
238	6	c.[735G>T(;) 730G>T(;) 736A>T]	p.[Lys245Asn(;)Val244Leu(;)Lys246X]	DIS4-S5	Compound	[P/﹢→P/O (94); N→N (32); Haploinsufficiency]	SMEI	Familial(Maternal,mosaic,asympt),P=2/2	Morimoto M.2006
239	6	c.[736A>T(;)730G>T(;) 735G>T]	p.[Lys246X(;)Val244Leu(;)Lys245Asn]	DIS4-S5	Nonsense	[Haploinsufficiency; N→N (32); P/﹢→P/O (94)]	SMEI	Familial(Maternal,mosaic,asympt),P=2/2	Morimoto M.2006
239	6	c.[736A>T(;)730G>T(;) 735G>T]	p.[Lys246X(;)Val244Leu(;)Lys245Asn]	DIS4-S5	Compound	[Haploinsufficiency; N→N (32); P/﹢→P/O (94)]	SMEI	Familial(Maternal,mosaic,asympt),P=2/2	Morimoto M.2006
240	6	c.739_744delCTCTCAinsAGC	p.Leu247del	DIS4-S5	In-frame deletion	ND	Ep and/or NDD	NA	Lindy AS.2018
241	6	c.747T>G	p.Asp249Glu	DIS4-S5	Missense	P/﹣→P/﹣(45)	SMEI	NA	Le Gal F.2014
242	6	c.748G>A	p.Val250Ile	DIS4-S5	Missense	N→N (29)	Abnormality of the nervous system	NA	Retterer K.2016
242	6	c.748G>A	p.Val250Ile	DIS4-S5	Missense	N→N (29)	Ep and/or NDD	NA	Lindy AS.2018
243	6	c.751delA	p.Met251X	DIS5	Nonsense	Haploinsufficiency	SME	NA	Xu X.2014
244	6	c.755T>A	p.Ile252Asn	DIS5	Missense	N→P/O (149)	SMEI	NA	Ceulemans BP.2004
245	6	c.756C>G	p.Ile252Met	DIS5	Missense	N→N (10)	IE	NA	Wang JW.2012
246	6	c.760_763delACTG	p.Thr254CysfsX4	DIS5	Frameshift	Haploinsufficiency	SMEI	NA	Martin P.2010
247	6	c.761C>T	p.Thr254Ile	DIS5	Missense	P/O→N (89)	FS+	NA	Zuberi SM.2011
248	6	c.765_766delGT	p.Phe256LeufsX20	DIS5	Frameshift	Haploinsufficiency	Ep	NA	Hesse AN.2018
249	6	c.769T>C	p.Cys257Arg	DIS5	Missense	N→P/﹢(180)	SME	NA	Xu X.2014
249	6	c.769T>C	p.Cys257Arg	DIS5	Missense	N→P/﹢(180)	Epilepsy and/or NDD	NA	Lindy AS.2018
250	6	c.777C>A	p.Ser259Arg	DIS5	Missense	P/O→P/﹢(110)	SMEI	De novo	Sun H.2010
250	6	c.777C>A	p.Ser259Arg	DIS5	Missense	P/O→P/﹢(110)	SMEI	NA	Wang JW.2012

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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.