K151N (p.Lys151Asn) variant of PLP1 (Myelin proteolipid protein)
K151N (p.Lys151Asn) 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.
K151N (p.Lys151Asn) variant details
- p.Lys151Asn
- rs886044450
- cosmic curated COSV58276
- ClinVar RCV004595776
- 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 novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease. (PMID 7531827)
- Cited in: PLP1-Related Disorders. (PMID 20301361)