A46P (p.Ala46Pro) variant of PRKN (O60260)
A46P (p.Ala46Pro) in PRKN (O60260) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PARK2. The record also includes experimental measurements, published literature, and structural context.
A46P (p.Ala46Pro) variant details
- p.Ala46Pro
- UniProt VAR 019737
- Pathogenic
- in PARK2
- Missense
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.619
- Cited in: [A new point mutation on exon 2 of parkin gene in Parkinson's disease]. (PMID 12362318)
- Cited in: A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French… (PMID 10072423)