L31P (p.Leu31Pro) variant of PLP1 (Myelin proteolipid protein)
L31P (p.Leu31Pro) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pelizaeus-Merzbacher disease. The record also includes published literature and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- UniProt VAR 015014
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- 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)