R586K (p.Arg586Lys) variant of AR (Androgen receptor)
R586K (p.Arg586Lys) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kennedy disease; Androgen resistance syndrome. The record also includes published literature and structural context.
R586K (p.Arg586Lys) variant details
- p.Arg586Lys
- Ensembl rs2147436681
- UniProt VAR 009740
- Likely pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- ClinVar: Likely pathogenic (Kennedy disease; Androgen resistance syndrome)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Mutations of androgen receptor gene in androgen insensitivity syndromes. (PMID 8240973)
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)