A33P (p.Ala33Pro) variant of PAX6 (Paired box protein Pax-6)
A33P (p.Ala33Pro) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes experimental measurements, published literature, and structural context.
A33P (p.Ala33Pro) variant details
- p.Ala33Pro
- UniProt VAR 008695
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.11
- Cited in: Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye… (PMID 9931324)
- Cited in: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (PMID 10234503)