F32V (p.Phe32Val) variant of PLP1 (Myelin proteolipid protein)
F32V (p.Phe32Val) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HLD1. The record also includes published literature and structural context.
F32V (p.Phe32Val) variant details
- p.Phe32Val
- UniProt VAR 015016
- Pathogenic
- in HLD1
- Missense
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. (PMID 9633722)
- Cited in: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major… (PMID 10417279)