TABLE 1.
Predictions from in silico analysis of AIPL1 mutants investigated in this study
| PolyPhen | SIFT | PMut | Chaperone activity | |
|---|---|---|---|---|
| R38C | Probably damaging | Damaging | Pathological | Yes |
| R53W | Probably damaging | Damaging | Pathological | Yes |
| V71F | Probably damaging | Damaging | Pathological | No |
| W72S | Probably damaging | Damaging | Pathological | No |
| C89R | Probably damaging | Damaging | Pathological | No |
| V96I | Benign | Tolerated | Neutral | Yes |
| T114I | Benign | Tolerated | Pathological | Yes |
| Y134F | Possibly damaging | Tolerated | Neutral | Yes |
| C239R | Probably damaging | Damaging | Pathological | No |
| G262S | Possibly damaging | Tolerated | Neutral | Yes |