F1473S (p.Phe1473Ser) variant of SCN4A (Nav1.4)
F1473S (p.Phe1473Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Paramyotonia congenita of Von Eulenburg. The record also includes published literature and structural context.
F1473S (p.Phe1473Ser) variant details
- p.Phe1473Ser
- rs2509285181
- ClinGen CA400616065
- ClinVar RCV003313329
- UniProt VAR 054949
- Likely pathogenic
- Paramyotonia congenita of Von Eulenburg
- Missense
- ClinVar: Likely pathogenic (Paramyotonia congenita of Von Eulenburg)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Structural context available
- Cited in: What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. (PMID 18166706)
- Cited in: Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating. (PMID 18690054)