S226P (p.Ser226Pro) variant of PLP1 (Myelin proteolipid protein)
S226P (p.Ser226Pro) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pelizaeus-Merzbacher disease; not provided; Hereditary spastic paraplegia 2. The record also includes published literature and structural context.
S226P (p.Ser226Pro) variant details
- p.Ser226Pro
- rs2522318268
- ClinVar RCV004595794
- ClinVar RCV004801469
- ClinVar RCV005102053
- Pathogenic/Likely pathogenic
- Pelizaeus-Merzbacher disease; not provided; Hereditary spastic paraplegia 2
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Pelizaeus-Merzbacher disease; not provided; Hereditary spastic p)
- EBI: Pathogenic (in SPG2)
- UniProt: Pathogenic (in SPG2)
- Structural context available
- Cited in: Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. (PMID 8780101)
- Cited in: PLP1-Related Disorders. (PMID 20301361)