G267E (p.Gly267Glu) variant of RPGR (Q92834)
G267E (p.Gly267Glu) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary ciliary dyskinesia. The record also includes published literature and structural context.
G267E (p.Gly267Glu) variant details
- p.Gly267Glu
- UniProt VAR 018063
- Likely pathogenic
- Primary ciliary dyskinesia
- Missense
- ClinVar: Likely pathogenic (Primary ciliary dyskinesia)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies… (PMID 16969763)
- Cited in: Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis… (PMID 10482958)