S76I (p.Ser76Ile) variant of RPGR (Q92834)
S76I (p.Ser76Ile) in RPGR (Q92834) is a missense change. The record also includes published literature and structural context.
S76I (p.Ser76Ile) variant details
- p.Ser76Ile
- rs1801685
- UniProt VAR 013624
- Missense
- Structural context available
- Cited in: Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis… (PMID 10480356)