M960T (p.Met960Thr) variant of SCN1A (Nav1.1)
M960T (p.Met960Thr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 2. The record also includes published literature and structural context.
M960T (p.Met960Thr) variant details
- p.Met960Thr
- UniProt VAR 073522
- Pathogenic
- Generalized epilepsy with febrile seizures plus, type 2
- Missense
- ClinVar: Pathogenic (Generalized epilepsy with febrile seizures plus, type 2)
- EBI: Pathogenic (in GEFSP2)
- UniProt: Pathogenic (in GEFSP2)
- Structural context available
- Cited in: Genotype-phenotype associations in SCN1A-related epilepsies. (PMID 21248271)
- Cited in: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. (PMID 10742094)