D226N (p.Asp226Asn) variant of IMPDH1 (P20839)
D226N (p.Asp226Asn) 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; not provided. The record also includes published literature.
D226N (p.Asp226Asn) variant details
- p.Asp226Asn
- UniProt VAR 017032
- Pathogenic/Likely pathogenic
- IMPDH1-related disorder; Retinal dystrophy; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (IMPDH1-related disorder; Retinal dystrophy; not provided)
- EBI: Pathogenic (in RP10)
- UniProt: Pathogenic (in RP10)
- Cited in: Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant… (PMID 11875050)
- Cited in: Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber… (PMID 16384941)