A243V (p.Ala243Val) variant of PLP1 (Myelin proteolipid protein)
A243V (p.Ala243Val) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pelizaeus-Merzbacher disease. The record also includes published literature and structural context.
A243V (p.Ala243Val) variant details
- p.Ala243Val
- rs2522322864
- ClinVar RCV004595798
- UniProt VAR 046918
- Pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- ClinVar: Pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease. (PMID 9482656)
- Cited in: PLP1-Related Disorders. (PMID 20301361)