L46R (p.Leu46Arg) variant of PAX6 (Paired box protein Pax-6)
L46R (p.Leu46Arg) 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.
L46R (p.Leu46Arg) variant details
- p.Leu46Arg
- UniProt VAR 047861
- Pathogenic
- in AN1
- Missense
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.465
- Cited in: Missense mutations in the DNA-binding region and termination codon in PAX6. (PMID 12552561)
- Cited in: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (PMID 10234503)