A1152D (p.Ala1152Asp) variant of SCN4A (Nav1.4)
A1152D (p.Ala1152Asp) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hyperkalemic periodic paralysis. The record also includes published literature and structural context.
A1152D (p.Ala1152Asp) variant details
- p.Ala1152Asp
- rs2509291040
- ClinGen CA400618813
- ClinVar RCV003506304
- ClinVar RCV004999957
- Likely pathogenic
- not provided; Hyperkalemic periodic paralysis
- Missense
- ClinVar: Likely pathogenic (not provided; Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Structural context available
- Cited in: A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast… (PMID 15790667)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)