AR
MIM.313700 Xq11-q12
Pathology
germline mutations in:
- androgen insensitivity syndrome (AIS) (MIM.300068)
- Reifenstein syndrome (MIM.12300)
- Kennedy spinal and bulbar muscular atrophy (SBMA) (MIM.313200)
somatic mutations in:
- prostatic carcinomas
Mutants
AR-L701H
References
Systematic structure-function analysis of androgen receptor L701 mutants explains the properties of the prostate cancer mutant L701H. van de Wijngaart DJ, Molier M, Lusher SJ, Hersmus R, Jenster G, Trapman J, Dubbink HJ. J Biol Chem. PMID: #20007693#