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Exon Position Change codon/amino acid Characteristics Ref. TIS +2 bp CAGCAT Germline mutation from a prostate cancer patient with no known family history of prostate cancer. Mutation abolishes the initiation CAG of the transcription initiation site II (TISII). 404 5' UTR +214 bp GCCGAC Germline mutation from a patient with a familial history of prostate cancer. 404 1 Contraction of the polyglutamine repeat from 20 to 18 151 1 Contraction of the polyglutamine repeat from 24 to 18. Detected in a radical prostatectomy sample prior to hormonal therapy. 405 1 57 CTGCAG LQ Isolated from a TURP sample prior to hormonal therapy. 330 1 111 CAGCAT QH Isolated from a TURP sample prior to hormonal therapy. 330 1 167 GGCAGC GS Identified in a TURP sample from a hormone refractory tumor after combined treatment of orchiectomy and bicalutamide. 406 1 179 AAAAGA KR Isolated from a TURP sample prior to hormonal therapy. 330 1 198 GAAGGA EG Isolated from a bone marrow metastasis from a patient with hormone refractory cancer after treatment with bicalutamide. 407 1 269 CCATCA PS Isolated from a TURP sample prior to hormonal therapy. 330 1 330 TCCCCC SP Isolated from a bone marrow metastasis from a patient with hormone refractory cancer after treatment with flutamide 407 1 527 GATGGT DG Isolated from a TURP sample prior to hormonal therapy. 330 2 546 TTGTTC LF Deletion resulting in a frameshift mutation expected to result in 12 missense amino acids prior to a stop codon. Detected in an archival latent prostatic tumor sample from a Japanese man. 327 2 553 CCACCC PP Deletion causing a frameshift expected to result in 5 missense amino acids prior to a stop codon. Detected in two archival latent prostatic tumor samples from Japanese men. 327 2 574 ACAGCA TA Isolated from a pelvic lymph node metastasis. This mutant can be weakly activated by DHEA in vitro. 152 328 2 579 AAGAGG KR Isolated from a pelvic lymph node metastasis. This mutant exhibits weak constitutive activity and can be transcriptionally activated by DHT, DHEA, flutamide, bicalutamide, hydrocortisone, estradiol, and progesterone. 152 328 2 585 GCCGTC AV Isolated from a pelvic lymph node metastasis sample. This mutant is transcriptionally inactive in vitro. 152 328 2 586 GTCTCT AS Isolated from a pelvic lymph node metastasis. This mutant can be activated by DHEA in vitro. 152 328 3 618 TGTTAT CY Identified in a pelvic lymph node metastasis. This mutation prevents AR DNA binding, resulting in loss of transcriptional activity. 328 408 4 670 ATCACC IT Isolated from a TURP sample prior to hormonal therapy. This mutant can be weakly activated by DHEA in vitro. 152 330 4 683 GGTGCT GA Isolated from two separate individuals with hormone refractory tumors carrying an amplification of AR. Conflicting results regarding the in vitro activity of this mutation have been reported, with one group finding that the transcriptional activity does not differ from the wild-type receptor and another group observing that the response of the mutant receptor to DHT is significantly reduced compared to wild type. 150 151 152 4 700 CTCCAC LH Isolated from a prostatic autopsy sample from a patient treated with castration and chlormadinone acetate whose cancer had become hormone resistant. Cancerous tissues from metastatic sites from the same patient showed a separate AR mutation (T876A). This mutant can be transcriptionally activated by DHT, DHEA, estradiol, hydrocortisone, progesterone, bicalutamide, and flutamide. 152 329 4 714 GTGATG VM Isolated from a fine-needle biopsy sample from a patient with metastatic prostate cancer. Prior to biopsy, the patient had been treated by castration followed by flutamide and estracyte. At the time of biopsy, the cancer was hormone refractory. There is no significant difference in the relative binding affinity between this mutant and the wild-type AR. However, this mutant demonstrates an enhanced transcriptional activation in response to HF, progesterone, DHEA, estradiol, androstone, androstanediol and androstenedione. 152 340 341 409 4 719 AAGGAG KE Isolated from a bone metastasis. Transcriptional activation of the mutant receptor in vitro does not differ significantly from the wild-type receptor in response to R1881 or DHT. 152 410

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