Table 2. Average conservation of phenotypically annotated mutations in the AR.
CAIS | PAIS | MAIS | CaP | Gene average | |
---|---|---|---|---|---|
Complete gene mutations | 1.81 ± 1.03 | 1.94 ± 1.21 | 3.21 ± 1.34 | 2.58 ± 1.46 | 3.59 ± 1.53 |
DBD | 0.44 ± 0.59 | 1.22 ± 1.28 | 4.93a | 0.66 ± 0.48 | 1.69 ± 1.49 |
LBD | 1.95 ± 0.83 | 2.02 ± 1.01 | 2.14 ± 0.55 | 2.20 ± 0.81 | 2.15 ± 0.423 |
Pathogenicity-proven | 1.88 ± 1.09 | 1.95 ± 1.05 | 3.35 ± 1.21 | 1.91 ± 0.94 | N/A |
All values are followed by the standard deviation. All positions were used. Positions with multiple phenotypes associated with them were reported separately for each phenotype. The DBD is residues 534–625, and the LBD is residues 664–919. ‘Gene average’ the average of all positions within the gene product.
aOnly one value.