Task 8 (MSUD)
From Bioinformatikpedia
Results
SIFT
The following table shows the prediction of mutation effects by SIFT. 6 out of 10 mutations are predicted to affect protein function.
| mutation | prediction | score | median sequence conservation | sequences represented at position |
|---|---|---|---|---|
| P38H | tolerated | 0.16 | 3.16 | 17 |
| M82L | tolerated | 0.56 | 3.03 | 43 |
| T151M | tolerated | 0.05 | 3.03 | 46 |
| A222T | affect protein function | 0.04 | 3.03 | 46 |
| C264W | affect protein function | 0.00 | 3.03 | 46 |
| R265W | affect protein function | 0.00 | 3.03 | 46 |
| R314Q | affect protein function | 0.01 | 3.03 | 46 |
| R346H | affect protein function | 0.00 | 3.03 | 46 |
| I361V | tolerated | 0.12 | 3.03 | 46 |
| Y413H | affect protein function | 0.00 | 3.03 | 46 |
Polyphen2
The prediction resuls of Polyphen2 are shown in the following table. 7 out of 10 mutations are predicted to be probably damaging (at least for the trained set HumDiv).
| HumDiv | HumVar | |||||||
|---|---|---|---|---|---|---|---|---|
| mutation | prediction | score | sensitivity | specificity | prediction | score | sensitivity | specificity |
| P38H | benign | 0.118 | 0.93 | 0.96 | benign | 0.042 | 0.93 | 0.62 |
| M82L | benign | 0.002 | 0.99 | 0.30 | benign | 0.006 | 0.97 | 0.45 |
| T151M | probably damaging | 0.963 | 0.78 | 0.95 | possibly damaging | 0.622 | 0.80 | 0.85 |
| A222T | probably damaging | 1.000 | 0.00 | 1.00 | probably damaging | 0.943 | 0.65 | 0.91 |
| C264W | probably damaging | 0.989 | 0.72 | 0.97 | possibly damaging | 0.887 | 0.71 | 0.89 |
| R265W | probably damaging | 1.000 | 0.00 | 1.00 | probably damaging | 1.000 | 0.00 | 1.00 |
| R314Q | probably damaging | 1.000 | 0.00 | 1.00 | probably damaging | 0.998 | 0.18 | 0.98 |
| R346H | probably damaging | 1.000 | 0.00 | 1.00 | probably damaging | 0.993 | 0.47 | 0.96 |
| I361V | benign | 0.386 | 0.90 | 0.89 | possibly damaging | 0.610 | 0.80 | 0.83 |
| Y413H | probably damaging | 1.000 | 0.00 | 1.0 | probably damaging | 0.999 | 0.09 | 0.99 |
