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