SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1417	25	c.4847T>C	p.Ile1616Thr	DIVS3	Missense	N→P/O (89)	PEFS+/GEFS+/FS+	3NA	Hattori J.2008
1417	25	c.4847T>C	p.Ile1616Thr	DIVS3	Missense	N→P/O (89)	PEFS+	Familial(Paternal,mosaic,asympt),P=1/1	Shi YW.2012

Inheritance information:

Number	Nucleotide change	Protein change	Mutation type	Proband's phenotype	1st transmitter's phenotype	Mosaic	Affected generations	Penetrance	Reference
131	c.4847T>C	p.Ile1616Thr(DIVS3)	Missense	PEFS+	PEFS+(Paternal)	Mosaic(~13.3%)	2	1/1	Shi YW.2012

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.