S43P (p.Ser43Pro) variant of PAX6 (Paired box protein Pax-6)
S43P (p.Ser43Pro) 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 experimental measurements, published literature, and structural context.
S43P (p.Ser43Pro) variant details
- p.Ser43Pro
- UniProt VAR 008698
- Pathogenic
- in AN1
- Missense
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.186
- 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)