R224P (p.Arg224Pro) variant of IMPDH1 (P20839)
R224P (p.Arg224Pro) in IMPDH1 (P20839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of IMPDH1-related disorder; Retinal dystrophy. The record also includes published literature and structural context.
R224P (p.Arg224Pro) variant details
- p.Arg224Pro
- UniProt VAR 017031
- Pathogenic/Likely pathogenic
- IMPDH1-related disorder; Retinal dystrophy
- Missense
- ClinVar: Pathogenic/Likely pathogenic (IMPDH1-related disorder; Retinal dystrophy)
- EBI: Pathogenic (in RP10)
- UniProt: Pathogenic (in RP10)
- Structural context available
- Cited in: Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative… (PMID 11875049)
- Cited in: Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant… (PMID 11875050)