V53D (p.Val53Asp) variant of PAX6 (Paired box protein Pax-6)
V53D (p.Val53Asp) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ASGD5. The record also includes experimental measurements, published literature, and structural context.
V53D (p.Val53Asp) variant details
- p.Val53Asp
- UniProt VAR 008700
- Pathogenic
- in ASGD5
- Missense
- EBI: Pathogenic (in ASGD5)
- UniProt: Pathogenic (in ASGD5)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score 0.16
- Cited in: Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. (PMID 10441571)
- Cited in: Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. (PMID 12721955)