The functional analysis of 50 clinical AR mutants recorded in ARDB in response to steroidal ligands.

The “+” mark indicates a full response of the AR mutants to indicated ligands was observed in plate yeast assays compared with LBD-WT, while the “–” mark indicates the opposite. The “Partial” mark indicated a partial ligand-induced response of the AR mutants. The concentration of all ligands in the yeast assay were 2 μM. Plates were photographed 60 h after incubation. Thirteen mutants (R630Q, K631T, S648N, E666D, Q671R, L702H, V731M, S783N, Q799E, R847G, M887I, K911R and Q920R) behaved similarly to the wild type protein showing full response to the physiological ligand DHT and partial response to a high dose (2 μM) of E2. Eight mutants (Q641X, K721E, W742X, M750I, W752X, V758A, R787X, Q868X) were identified as loss-of function mutations failed to respond to any tested steroids. Mutations ending in X like Q641X indicated that a stop-codon was generated in this position resulting in the expression of a truncated AR protein.