H372P (p.His372Pro) variant of IMPDH1 (P20839)
H372P (p.His372Pro) in IMPDH1 (P20839) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in RP10. The record also includes published literature.
H372P (p.His372Pro) variant details
- p.His372Pro
- UniProt VAR 065621
- Pathogenic
- in RP10
- Missense
- EBI: Pathogenic (in RP10)
- UniProt: Pathogenic (in RP10)
- Cited in: Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber… (PMID 16384941)
- Cited in: Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative… (PMID 11875049)