A39T (p.Ala39Thr) variant of PLP1 (Myelin proteolipid protein)
A39T (p.Ala39Thr) 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.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- cosmic curated COSV58276
- UniProt VAR 015018
- Pathogenic
- in HLD1
- Missense
- 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: Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. (PMID 15712223)