R19P (p.Arg19Pro) variant of PAX6 (Paired box protein Pax-6)
R19P (p.Arg19Pro) 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.
R19P (p.Arg19Pro) variant details
- p.Arg19Pro
- UniProt VAR 047860
- Pathogenic
- in AN1
- Missense
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.249
- Cited in: Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular… (PMID 12634864)
- Cited in: Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. (PMID 24033328)