SCN1A mutation database!

SCN1A mutations list 2/38

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
51	1	c.241G>A	p.Asp81Asn	N-terminal	Missense	P/﹣→P/O (23)	SMEI	De novo	Usluer S.2016
52	1	c.243C>A	p.Asp81Glu	N-terminal	Missense	P/﹣→P/﹣(45)	SMEB	De novo	L?fgren A.2010(unpublished)
53	1	c.243C>G	p.Asp81Glu	N-terminal	Missense	P/﹣→P/﹣(45)	Ep and/or NDD	NA	Lindy AS.2018
54	1	c.249C>A	p.Tyr83X	N-terminal	Nonsense	Haploinsufficiency	SMEB	De novo	Zuberi SM.2011
55	1	c.249C>G	p.Tyr83X	N-terminal	Nonsense	Haploinsufficiency	SMEI	De novo	Nabbout R.2003
							SMEI	De novo	Marini C.2007
							SMEI	NA	Ko A.2018
56	1	c.249dupC	p.Tyr84LeufsX4	N-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Ishii A.2017
57	1	c.251A>G	p.Tyr84Cys	N-terminal	Missense	P/O→N (194)	SMEI	De novo	Harkin LA.2007
							SMEI	De novo	Wang JW.2012
							SMEI	NA	Wang JW.2012
58	1	c.253_254dupAT	p.Asn86SerfsX7	N-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Ishii A.2017
59	IVS1	c.264+2T>C		N-terminal	Splice donor site	ND	SMEI	De novo	Wang JW.2012
60	IVS1	c.264+5G>A		N-terminal	Splice donor site	ND	SMEI	De novo	Mancardi MM.2006
61	IVS1	c.264+5G>C		N-terminal	Splice donor site	ND	SME	NA	Lee HF.2014
62	IVS1	c.264+4_264+7delAGTG		N-terminal	Splice donor site	ND	SMEI	NA	Zuberi SM.2011
63	IVS1	c.264+2T>G		N-terminal	Splice donor site	ND	SMEI	NA	Ishii A.2017
64	IVS1	c.265-3C>T		N-terminal	Splice acceptor site	ND	GEFS+	Familial(Maternal)	Zuberi SM.2011
65	IVS1	c.265-3C>A		N-terminal	Splice acceptor site	ND	SMEI	De novo	Marini C.2007
66	IVS1	c.265-1G>A		N-terminal	Splice acceptor site	ND	SMEI	De novo	Harkin LA.2007
							SME	De novo	Depienne C.2009
							Epilepsy and/or NDD	NA	Lindy AS.2018
67	IVS1	c.265-1G>C		N-terminal	Splice acceptor site	ND	NA	De novo	Depienne C.2009
68	2	c.269T>C	p.Phe90Ser	N-terminal	Missense	N→P/O (155)	IE	NA	Sun H.2008a
							IE	NA	Wang JW.2012
							SMEI	NA	Butler KM.2017
							SMEI	Father, FS at the early age,MOSAIC	Xu X.2015
69	2	c.272T>C	p.Ile91Thr	N-terminal	Missense	N→P/O (89)	SMEI	De novo	Sun H.2008a
69	2	c.272T>C	p.Ile91Thr	N-terminal	Missense	N→P/O (89)	SMEI	NA	Xu X.2014
70	2	c.272_273delTA	p.Ile91SerfsX4	N-terminal	Frameshift	Haploinsufficiency	SMEI	NA	Depienne C.2009
70	2	c.272_273delTA	p.Ile91SerfsX4	N-terminal	Frameshift	Haploinsufficiency	SMEB	NA	Villeneuve N.2014
71	2	NA	p.Ile91fs	N-terminal	Frameshift	Haploinsufficiency	SME	NA	Lee HF.2014
72	2	c.277_278delTT	p.Leu93GlufsX2	N-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Mancardi MM.2006
72	2	c.277_278delTT	p.Leu93GlufsX2	N-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Riva D.2009
73	2	c.278T>C	p.Leu93Ser	N-terminal	Missense	N→P/O (145)	SME	NA	Lee HF.2014
74	2	c.278delT	p.Leu93X	N-terminal	Nonsense	Haploinsufficiency	SMEI	NA	Cetica V.2017
75	2	c.282T>A	p.Asn94Lys	N-terminal	Missense	P/O→P/﹢ (94)	SMEI	De novo	Ishii A.2017
76	2	c.283_286dupAAAG	p.Gly96GlufsX24	N-terminal	Frameshift	Haploinsufficiency	Intellectual disability, challenging behaviour & seizures	De novo	Fry AE.2016
77	2	c.289_292delAAGG	p.Lys97fsx14	N-terminal	Frameshift	Haploinsufficiency	SME	NA	Xu X.2014
78	2	c.292G>C	p.Ala98Pro	N-terminal	Missense	N→N (27)	SMEI	De novo	Zuberi SM.2011
79	2	c.292delG	p.Ala98ProfsX14	N-terminal	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
80	2	c.301C>T	p.Arg101Trp	N-terminal	Missense	P/﹢→N (101)	SMEB-SW	De novo	Harkin LA.2007
							SMEI	NA	Depienne C.2009
							SMEI	De novo	Sun H.2010
							SMEI	NA	Wang JW.2012
							PE + FS	NA	Fry AE.2016
							SMEI	NA	Kothur K.2018
							Epilepsy and/or NDD	NA	Lindy AS.2018
							SMEI	NA	Usluer S.2016
81	2	c.302G>A	p.Arg101Gln	N-terminal	Missense	P/﹢→P/O (43)	SMEB	De novo	Fukuma G.2004
							SMEB	De novo	Marini C.2007
							SMEI	De novo	Harkin LA.2007
							SMEI/NA	De novo;NA	Depienne C.2009
							SMEI	Familial(Maternal,mosaic, FS+),p=3/3	Sun H.2010
							GEFS+	NA	Ebrahimi A.2010
							SMEI	2De novo;1NA	Zuberi SM.2011
							SMEI	De novo	Petrelli C.2012
							SMEB	De novo	Wang JW.2012
							IE	NA	Wang JW.2012
							PEFS+	Familial(Maternal,mosaic,FS+ ),p=3/3	Xu XJ.2012a
							SME	De novo	Verbeek NE.2013
							GEFS+	NA	Tonekaboni SH.2013
							PEFS+	De novo	Kim YO.2014
							SME	NA	Lee HF.2014
							SME	De novo	Djemie T.2016
							Epilepsy and/or NDD	NA	Lindy AS.2018
82	3	c.305dupT	p.Ser103GlnfsX16	N-terminal	Frameshift	Haploinsufficiency	Abnormality of the nervous system	NA	Retterer K.2016
83	2	c.307A>G	p.Ser103Gly	N-terminal	Missense	P/O→N (56)	SMEI	Familial(Paternal)	Ebrahimi A.2010
							SMEI	NA	Fujiwara T.2003
							SME	NA	Tonekaboni SH.2013
84	2	c.308G>T	p.Ser103Ile	N-terminal	Missense	P/O→N (142)	SMEI	NA	Xu X.2015
85	2	c.311C>T	p.Ala104Val	N-terminal	Missense	N→N (64)	NA	NA	L?fgren A.2010(unpublished)
							SMEI	De novo	Kwong AK.2012
							Epilepsy and/or NDD	NA	Lindy AS.2018
							TLE	Son severe infantile EE， Son FS+	Myers KA.2017
							SMEI	De novo	Wang Y.2017
86	2	c.314C>T	p.Thr105Ile	N-terminal	Missense	P/O→N (89)	SMEI	NA	Wang JW.2012
86	2	c.314C>T	p.Thr105Ile	N-terminal	Missense	P/O→N (89)	Epilepsy and/or NDD	NA	Lindy AS.2018
87	2	c.317C>T	p.Ser106Phe	N-terminal	Missense	P/O→N (155)	FE(MCDs)	Familial(Paternal,epilepsy),P=2/2	Barba C.2014
88	2	c.320C>A	p.Ala107Asp	N-terminal	Missense	N→P/﹣(126)	SMEI	De novo	Ishii A.2017
89	2	c.323T>G	p.Leu108Arg	N-terminal	Missense	N→P/﹢(102)	SMEI	NA	Zuberi SM.2011
							SMEB	NA	Zuberi SM.2011
							Secondary epilepsy	NA	Tang S.2011
90	2	c.323T>C	p.Leu108Pro	N-terminal	Missense	N→N (98)	SMEI	NA	Xu X.2015
91	2	c.332T>A	p.Leu111X	N-terminal	Nonsense	Haploinsufficiency	EP and NDD	mosaic pathogenic variant	Stosser MB.2018
91	2	c.332T>A	p.Leu111X	N-terminal	Nonsense	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
92	2	c.335C>T	p.Thr112Ile	N-terminal	Missense	P/O→N (89)	SMEI	NA	Fujiwara T.2003
93	2	c.337C>A	p.Pro113Thr	N-terminal	Missense	N→P/O (38)	SME	NA	Xu X.2014
93	2	c.337C>A	p.Pro113Thr	N-terminal	Missense	N→P/O (38)	Epilepsy and/or NDD	NA	Lindy AS.2018
94	2	c.338C>T	p.Pro113Leu	N-terminal	Missense	N→N (98)	Ep and/or NDD	NA	Lindy AS.2018
95	2	c.342_344delCAAinsAGGAGTT	p.Phe114LeufsX6	N-terminal	Frameshift	Haploinsufficiency	SME	De novo	Kodera H.2013
96	2	c.350_351delTT	p.Leu117GlnfsX6	N-terminal	Frameshift	Haploinsufficiency	SMEI	De novo	Depienne C.2009
97	2	c.354G>C	p.Arg118Ser	N-terminal	Missense	P/﹢→P/O (110)	SMEI	De novo	Zucca C.2008
98	2	c.368delA	p.Lys123ArgfsX11	DIS1	Frameshift	Haploinsufficiency	Ep and/or NDD	NA	Lindy AS.2018
99	2	c.371T>A	p.Ile124Asn	DIS1	Missense	N→P/O (149)	SME-Late onset	Familial(Maternal,Mosaic,IGE),P=1/1	Depienne C.2009
100	2	c.379C>G	p.His127Asp	DIS1	Missense	P/﹢→P/﹣(81)	SMEB	De novo	Zuberi SM.2011
							SMEI	NA	Zuberi SM.2011
							DS	NA	Cetica V.2017
							Epilepsy and/or NDD	NA	Lindy AS.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.