SCN1A mutation database!

Functional study on SCN1A UTR mutations

Total items found: 3

Number	DNA position	Location	Phenotype	Details of the abnormal result	Reference
1	del SCN1A 5?UTR (73.8Kb)	5' UTR	SMEI	The deletion of two sequences with promoter function.	Nakayama T. 2010
2	del SCN1A 5?UTR, SCN7A,SCN9A	5' UTR	SMEB	The deletion of two sequences with promoter function.	Nakayama T. 2010
3	c.*1794C>T	3'UTR	SMEI	The variant negatively regulates the reporter gene expression by affecting the mRNA stability that is mediated by GAPDH’s binding.	Zeng T. 2014

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.