S253F (p.Ser253Phe) variant of PLP1 (Myelin proteolipid protein)
S253F (p.Ser253Phe) 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.
S253F (p.Ser253Phe) variant details
- p.Ser253Phe
- rs2522323235
- ClinVar RCV004595802
- NCI-TCGA Cosmic COSV5827
- cosmic curated COSV58276
- 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: A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher… (PMID 9788732)
- Cited in: PLP1-Related Disorders. (PMID 20301361)