Table 5.
Predictions of the effect of the 62 identified missense variations on HGD protein function a
Study | SIFT | SNAP | POLYPHEN | PANTHER | PMUT | Common b | |
Deleterious | 33 | 33 | 32 | 24 | 21 | 17 | |
Ambiguous | 1 | 0 | 3 | 0 | 0 | 0 | |
Benign | 2 | 3 | 1 | 12 | 15 | 0 | |
Published | SIFT | SNAP | POLYPHEN | PANTHER | PMUT | Common b | |
Deleterious | 22 | 22 | 18 | 15 | 14 | 12 | |
Ambiguous | 0 | 0 | 5 | 0 | 0 | 0 | |
Benign | 4 | 4 | 3 | 11 | 12 | 2 |
The predictions were made using prediction software (SIFT, POLYPHEN, PANTHER, PMUT and SNAP), see Supporting Information for more details
Number of variants that have the same prediction in all the prediction tools