S152L (p.Ser152Leu) variant of RPGR (Q92834)
S152L (p.Ser152Leu) 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.
S152L (p.Ser152Leu) variant details
- p.Ser152Leu
- UniProt VAR 025949
- Pathogenic
- in RP3
- Missense
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a… (PMID 12657579)
- Cited in: Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis… (PMID 10482958)