N17S (p.Asn17Ser) variant of PAX6 (Paired box protein Pax-6)
N17S (p.Asn17Ser) 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.
N17S (p.Asn17Ser) variant details
- p.Asn17Ser
- UniProt VAR 003808
- Pathogenic
- in AN1
- Missense
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.417
- Cited in: Missense mutations in the PAX6 gene in aniridia. (PMID 9856761)
- Cited in: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (PMID 10234503)