SCN1A mutation database!

SCN1A mutations list 23/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1101	21	c.4061G>A	p.Cys1354Tyr	DIIIS5	Missense	N→P/O (194)	SME	NA	Lee HF.2014
1102	21	c.4062delT	p.Ile1356ThrfsX4	DIIIS5	Frameshift	Haploinsufficiency	SMEB	De novo	Harkin LA.2007
1103	21	c.4064T>C	p.Leu1355Pro	DIIIS5	Missense	N→N (98)	SMEB	NA	Fukuma G.2004
1103	21	c.4064T>C	p.Leu1355Pro	DIIIS5	Missense	N→N (98)	SMEB	NA	Wang JW.2012
1104	21	c.4069T>C	p.Phe1357Leu	DIIIS5	Missense	N→N (22)	IE	NA	Wang JW.2012
1105	21	c.4072T>C	p.Trp1358Arg	DIIIS5	Missense	N→P/﹢ (101)	SMEI	De novo	Zuberi SM.2011
1106	21	c.4073G>A	p.Trp1358X	DIIIS5	Nonsense	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011
1107	21	c.4073G>C	p.Trp1358Ser	DIIIS5	Missense	N→P/O(177)	SMEI	De novo	Zucca C.2008
1107	21	c.4073G>C	p.Trp1358Ser	DIIIS5	Missense	N→P/O(177)	SMEI	NA	Petrelli C.2012
1108	21	c.4075C>A	p.Leu1359Ile	DIIIS5	Missense	N→N (5)	SMEI	Familial.Maternal,asympt),P=1/2	Cetica V.2017
1109	21	c.4076T>A	p.Leu1359Gln	DIIIS5	Missense	N→P/O (113)	SMEI	De novo	Gokben S.2017
1110	21	c.4078delA	p.Ile1360PhefsX7	DIIIS5	Frameshift	Haploinsufficiency	SMEI	De novo	L?fgren A.2010(unpublished)
1111	21	c.4086C>G	p.Ser1362Arg	DIIIS5	Missense	P/O→P/﹢ (110)	SME	NA	Xu X.2014
1112	21	c.4088T>A	p.Ile1363Asn	DIIIS5	Missense	N→P/O(149)	SME	NA	Xu X.2014
1113	21	c.4089delC	p.Ile1363fsX4	DIIIS5	Frameshift	Haploinsufficiency	SMEB	NA	Wang JW.2012
1114	21	c.4091T>A	p.Met1364Lys	DIIIS5	Missense	N→P/﹢ (95)	SME	NA	Villeneuve N.2014
1115	21	c.4093G>A	p.Gly1365Ser	DIIIS5	Missense	N→P/O(56)	SMEI	Familial(Mosaic)	L?fgren A.2010(unpublished)
1116	21	c.4094G>A	p.Gly1365Asp	DIIIS5	Missense	N→P/﹣(94)	SMEI	De novo	L?fgren A.2010(unpublished)
1117	21	c.4096G>A	p.Val1366Ile	DIIIS5-S6	Missense	N→N (29)	ICEGTC	NA	Osaka H.2007
							GEFS+(&tonic)	Familial(Paternal,GEFS+)
							FS+(&myoclonic)	Familial(Maternal,asympt),P=1/2
							Epilepsy and/or NDD	NA	Lindy AS.2018
1118	21	c.4096G>T	p.Val1366Leu	DIIIS5	Missense	N→N (32)	Ep and/or NDD	NA	Lindy AS.2018
1119	21	c.4101T>A	p.Asn1367Lys	DIIIS5-S6	Missense	P/O→P/﹢ (94)	SME(Late-onset)	Familial(Paternal,IGE),P=1/1	Depienne C.2009
1120	21	c.4103delT	p.Leu1368CysfsX23	DIIIS5	Frameshift	Haploinsufficiency	NA	NA	L?fgren A.2010(unpublished)
1121	21	c.4105_4108delTTTG	p.Phe1369LeufsX21	DIIIS5	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1122	21	c.4108G>C	p.Ala1370Pro	DIIIS5	Missense	N→N (27)	SMEB	NA	Zuberi SM.2011
1123	21	c.4109C>T	p.Ala1370Val	DIIIS5	Missense	N→N (64)	SMEI-like	De novo	L?fgren A.2010(unpublished)
							SMEI	NA	Ozmen M.2011
							GEFS+	NA	Cetica V.2017
1124	21	c.4112G>T	p.Gly1371Val	DIIIS5	Missense	N→N (109)	SME	NA	Dhamija R.2014
1124	21	c.4112G>T	p.Gly1371Val	DIIIS5	Missense	N→N (109)	SMEI	De novo	Liu J.2018
1125	21	c.4114A>G	p.Lys1372Glu	DIIIS5	Missense	P/﹢→P/﹣(56)	GEFS+	Familial(Paternal,FS+),P=14/17	Goldberg-Stern H.2014
1125	21	c.4114A>G	p.Lys1372Glu	DIIIS5	Missense	P/﹢→P/﹣(56)	GEFS+	NA	Bennett CA.2017
1126	21	c.4118T>C	p.Phe1373Ser	DIIIS5	Missense	N→P/O (155)	SMEI	NA	Cetica V.2017
1127	21	c.4126T>C	p.Cys1376Arg	DIIIS5	Missense	N→P/﹢ (180)	SMEI	De novo	L?fgren A.2010(unpublished)
1127	21	c.4126T>C	p.Cys1376Arg	DIIIS5	Missense	N→P/﹢ (180)	IE	NA	Wang JW.2012
1128	21	c.4127_4128delGT	p.Cys1376TyrfsX2	DIIIS5	Nonsense	Haploinsufficiency	SMEI	De novo	Lim BC.2011
1128	21	c.4127_4128delGT	p.Cys1376TyrfsX2	DIIIS5	Nonsense	Haploinsufficiency	HHE	NA	Kim DW.2013
1129	21	c.4132A>C	p.Asn1378His	DIIIS5-S6	Missense	P/O→P/﹢ (68)	SMEI	NA	Zuberi SM.2011
1130	21	c.4133A>C	p.Asn1378Thr	DIIIS5-S6	Missense	P/O→P/O(65)	SMEI	NA	Zuberi SM.2011
1130	21	c.4133A>C	p.Asn1378Thr	DIIIS5-S6	Missense	P/O→P/O(65)	DS	NA	Cho MJ.2018
1131	21	c.4133delA	p.Asn1378ThrfsX13	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Depienne C.2009
1132	21	c.4135G>T	p.Val1379Leu	DIIIS5-S6	Missense	N→N (32)	PEFS+	Familial(Maternal,GEFS+),P=4/4	Mhanni AA.2011
1133	21	c.4144G>C	p.Gly1382Arg	DIIIS5-S6	Missense	N→P/﹢ (125)	PEFS+	Familial(Maternal,FS),P=4/5	Xu XJ.2012a
1134	21	c.4145dupG	p.Asp1383GlyfsX4	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Surovy M.2016
1135	21	c.4145G>T	p.Gly1382Val	DIIIS5-S6	Missense	N→N (109)	SMEI	De novo	Liu J.2018
1135	21	c.4145G>T	p.Gly1382Val	DIIIS5-S6	Missense	N→N (109)	SMEI	NA	Haginoya K.2018
1136	21	c.4153T>G	p.Phe1385Val	DIIIS5-S6	Missense	N→N (50)	SMEI	NA	Wang JW.2012
1137	21	c.4166delA	p.Asp1389AlafsX2	DIIIS5-S6	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
1138	21	c.4168G>A	p.Val1390Met	DIIIS5-S6	Missense	N→N (21)	SMEI	NA	Ohmori I.2002
							SMEB-M	De novo	Harkin LA.2007
							SMEI	De novo	Sun H.2008a
							SMEI	NA	Rilstone JJ.2012
							SME	De novo	Verbeek NE.2013
							SME	NA	Lee HF.2014
							DS	NA	Cho MJ.2018
1139	21	c.4172A>G	p.Asn1391Ser	DIIIS5-S6	Missense	P/O→P/O(46)	SMEI	NA	Depienne C.2009
1140	21	c.4176T>A	p.Asn1392Lys	DIIIS5-S6	Missense	P/O→P/﹢ (94)	EE (early infantile)	De novo	Arafat A.2017
1141	21	c.4177C>G	p.His1393Asp	DIIIS5-S6	Missense	P/﹢→P/﹣(81)	GEFS+	De novo	Myers KA.2017
1142	21	c.4178A>C	p.His1393Pro	DIIIS5-S6	Missense	P/﹢→N (77)	SMEB	De novo	Stefanaki E.2006
1143	21	c.4181C>T	p.Thr1394Ile	DIIIS5-S6	Missense	P/O→N (89)	SMEI	De novo	Zuberi SM.2011
1143	21	c.4181C>T	p.Thr1394Ile	DIIIS5-S6	Missense	P/O→N (89)	SMEI	NA	Woods NT.2016
1144	21	c.4183G>T	p.Asp1396Tyr	DIIIS5-S6	Missense	P/﹣→P/O(160)	SMEI	De novo	Specchio N.2010
1145	21	c.4186T>G	p.Cys1396Gly	DIS5-S6	Missense	N→N (159)	SMEB-SW	De novo	Harkin LA.2007
1146	21	c.4187G>A	p.Cys1396Tyr	DIIIS5-S6	Missense	N→P/O(194)	SMEI	De novo	Zuberi SM.2011
1147	23	c.4188C>A	p.Cys1396X	DIIIS5-S6	Nonsense	Haploinsufficiency	SME	NA	Xu X.2014
1148	21	c.4189delC	p.Leu1397X	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Depienne C.2009
1149	21	c.4201_4202delGA	p.Glu1401LysfsX3	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	NA	Depienne C.2009
1150	21	c.4205_4208delGAAA	p.Arg1402fsX9	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Yordanova I.2011
1150	21	c.4205_4208delGAAA	p.Arg1402fsX9	DIIIS5-S6	Frameshift	Haploinsufficiency	SMEI	De novo	Zuberi SM.2011

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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.