L40R (p.Leu40Arg) variant of RHO (Rhodopsin)
L40R (p.Leu40Arg) in RHO (Rhodopsin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in RP4. The record also includes published literature and structural context.
L40R (p.Leu40Arg) variant details
- p.Leu40Arg
- UniProt VAR 004771
- Pathogenic
- in RP4
- Missense
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa. (PMID 8081400)
- Cited in: Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal… (PMID 12566452)