C169R (p.Cys169Arg) variant of PLP1 (Myelin proteolipid protein)
C169R (p.Cys169Arg) 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.
C169R (p.Cys169Arg) variant details
- p.Cys169Arg
- rs2522314343
- ClinGen CA414103719
- ClinVar RCV003151927
- UniProt VAR 015028
- 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: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major… (PMID 10417279)
- Cited in: PLP1-Related Disorders. (PMID 20301361)