A79E (p.Ala79Glu) variant of PAX6 (Paired box protein Pax-6)
A79E (p.Ala79Glu) 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 AN1. The record also includes published literature and structural context.
A79E (p.Ala79Glu) variant details
- p.Ala79Glu
- UniProt VAR 008703
- Pathogenic
- in AN1
- Missense
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- Cited in: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (PMID 10234503)
- Cited in: Mutation in the PAX6 gene in twenty patients with aniridia. (PMID 10737978)