SCN1A mutation database!

SCN1A mutations affect splicing

Total items found: 7

Number	Intron	Nucleotide change	Phenotype	Details of the abnormal result	Protein change	Reference
1	IVS 4	c.602+1G>A	SMEI	Deletion of exon 4.	p.Thr160_Tyr202del	Meng H, Epilepsia 2013: 54(Suppl.3): 192
2	IVS 21	c.4284+2T>C	SMEI	Deletion of exon 21.	p.Val1335_Val1428del	Meng H, Epilepsia 2013: 54(Suppl.3): 192
3	IVS 14	c.2589+3A>T	SMEI	Deletion of exon 14.	p.Val806_Leu863del	Liu Y, Ann Neurol. 2013: 74(1):128-39
4	IVS 3	c.473+5G>A	PEFS+	Normal transcripts, and aberrant transcripts with deletion of exon 3 and partial exon 2 (8bp) .	p.Val126IlefsX10	Meng H, Epilepsia 2013: 54(Suppl.3): 192
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
6	IVS 3	c.473+110A>G	FS+	Normal transcripts, and aberrant transcripts with insertion of intron 3 (1644bp).	p.Tyr159X	Meng H, Epilepsia 2013: 54(Suppl.3): 192
7	IVS 26	c.4853-25T>A	PEFS+	Normal transcripts, and aberrant transcripts with insertion of partial intron 25(23bp) .	p.Met1619IHisfsX7	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.