C577R (p.Cys577Arg) variant of AR (Androgen receptor)
C577R (p.Cys577Arg) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Androgen resistance syndrome; Kennedy disease. The record also includes published literature and structural context.
C577R (p.Cys577Arg) variant details
- p.Cys577Arg
- UniProt VAR 009732
- Pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- ClinVar: Pathogenic (Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of… (PMID 1316540)
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)