F51S (p.Phe51Ser) variant of PLP1 (Myelin proteolipid protein)
F51S (p.Phe51Ser) 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.
F51S (p.Phe51Ser) variant details
- p.Phe51Ser
- UniProt VAR 015021
- Pathogenic
- in HLD1
- Missense
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.… (PMID 11093273)
- Cited in: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major… (PMID 10417279)