G58V (p.Gly58Val) variant of SCN1A (P35498)
G58V (p.Gly58Val) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe myoclonic epilepsy in infancy. The record also includes published literature and structural context.
G58V (p.Gly58Val) variant details
- p.Gly58Val
- UniProt VAR 073443
- Likely pathogenic
- Severe myoclonic epilepsy in infancy
- Missense
- ClinVar: Likely pathogenic (Severe myoclonic epilepsy in infancy)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (PMID 18930999)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)