L46R (p.Leu46Arg) variant of PLP1 (Myelin proteolipid protein)
L46R (p.Leu46Arg) 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.
L46R (p.Leu46Arg) variant details
- p.Leu46Arg
- UniProt VAR 015020
- Pathogenic
- in HLD1
- Missense
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. (PMID 9894878)
- Cited in: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major… (PMID 10417279)