SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1760	26	c.5864T>C	p.Ile1955Thr	C-terminal	Missense	N→P/O (89)	GEFS+	Familial(Paternal,asympt),P=1/2	Polizzi A.2012
1760	26	c.5864T>C	p.Ile1955Thr	C-terminal	Missense	N→P/O (89)	ASD	NA	Weiss LA.2003

Inheritance information:

Number	Nucleotide change	Protein change	Mutation type	Proband's phenotype	1st transmitter's phenotype	Mosaic	Affected generations	Penetrance	Reference
173	c.5864T>C	p.Ile1955ThrC-terminal)	Missense	GEFS+	No symptom (Paternal)		2	1/2	Polizzi A.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.