Table 3.
Set of nsSNPs indicated by structure-based methods to be detrimental.
| SNP IDs | Mutation | I-Mutant | CUPSAT (Thermal) |
CUPSAT (Denature) |
MUpro (Increase ↑ or Decrease ↓) | Align-GVGD | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A | B | A | B | A | B | SVM | NN | SV0M | NN | |||
| rs5743316 | N284I | ↓stability | ↓stability | Stabilizing | Stabilizing | Destabilizing | Destabilizing | ↑ | ↑ | ↓ | ↓ | Most likely |
| rs752889035 | C37R | ↓stability | ↓stability | Destabilizing | Destabilizing | Stabilizing | Stabilizing | ↑ | ↓ | ↓ | ↓ | Most likely |
| rs760275329 | Q538P | ↓stability | ↓stability | Stabilizing | Destabilizing | Destabilizing | Destabilizing | ↓ | ↓ | ↓ | ↓ | Most likely |
| rs768091235 | L360P | ↓stability | ↓stability | Destabilizing | Destabilizing | Stabilizing | Stabilizing | ↓ | ↓ | ↓ | ↓ | Most likely |
*Note: I-Mutant: Free energy change value (DDG) classified into largely unstable if less than − 0.5 kcal/mol, largely stable if more than 0.5 kcal/mol, and neutral if the value lies in between.
Align-GVGD: combines evolutionary conservation and biophysical properties to classify missense mutations from C0 to C65, where C65 indicates the highest likelihood of functional disruption.
MUpro: A score less than 0 means the mutation decreases the protein stability. The smaller the score, the more confident the prediction is. Conversely, a score more than 0 means the mutation increases the protein stability. The bigger the score, the more confident the prediction is.