E285G (p.Glu285Gly) variant of RPGR (Q92834)
E285G (p.Glu285Gly) in RPGR (Q92834) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in RP3. The record also includes published literature and structural context.
E285G (p.Glu285Gly) variant details
- p.Glu285Gly
- UniProt VAR 026128
- Pathogenic
- in RP3
- Missense
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis… (PMID 11992260)
- Cited in: Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis… (PMID 10482958)