A30P (p.Ala30Pro) variant of PLP1 (Myelin proteolipid protein)
A30P (p.Ala30Pro) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SPG2. The record also includes published literature and structural context.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- UniProt VAR 070667
- Pathogenic
- in SPG2
- Missense
- EBI: Pathogenic (in SPG2)
- UniProt: Pathogenic (in SPG2)
- Structural context available
- Cited in: A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2. (PMID 24103481)
- Cited in: Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance… (PMID 10319897)