Table 1.
Pathogenicity and stability prediction
| Mutation | S66W | R74C | R245H |
|---|---|---|---|
| PANTHER | Disease | Disease | Disease |
| Score# | 0.938 | 0.985 | 0.666 |
| PhD-SNP | Disease | Disease | Neutral |
| Score# | 0.559 | 0.757 | 0.387 |
| SIFT | Disease | Disease | Neutral |
| Score# | 0 | 0 | 0.08 |
| SNAP | Disease | Disease | Disease |
| Score# | 0.75 | 0.865 | 0.67 |
| Meta-SNP | Disease | Disease | Disease |
| Score# | 0.814 | 0.902 | 0.627 |
| RI* | 6 | 8 | 3 |
| SDM | Destabilizing | Destabilizing | Destabilizing |
| DDG$ | −0.63 | −1.82 | −1.15 |
| MuPro | Destabilizing | Destabilizing | Destabilizing |
| DDG$ | −0.467 | −0.584 | −1.068 |
| I-mutant 3.0 | Destabilizing | Destabilizing | Destabilizing |
| DDG$ | −0.34 | −0.72 | −1.71 |
*RI - Reliability Index between 0 and 10; # For PANTHER, PhD-SNP, SNAP, and Meta SNP tools: the score ranges between 0 and 1. If > 0.5 mutation is predicted Disease; for SIFT the score is Positive Value If > 0.05 mutation is predicted Neutral; $A value with DDG > 0 shows increased stability, and DDG < 0 shows decreased stability