SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
967	IVS18	c.3705+1G>T		DIIIS1	Splice donor site	Del. partial exon 18 + ins. partial intron 18	SMEI	De novo	Nabbout R.2003
967	IVS18	c.3705+1G>T		DIIIS1	Splice donor site	Del. partial exon 18 + ins. partial intron 18	SMEI	De novo	Mancardi MM.2006

Functional information:

Number	Intron	Nucleotide change	Phenotype	Details of the abnormal result	Protein change	Reference
5	IVS 18	c.3705+1G>T	SMEI	Deletion partial exon 18( 49 bp ), and insertion partial intron 18 (20 bp) .	p.Phe1220HisfsX34, p.Ala1236ValfsX41	Meng H, Epilepsia 2013: 54(Suppl.3): 192

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.