From: In silico analysis of missense mutations in exons 1–5 of the F9 gene that cause hemophilia B
Program | Based on | Prediction | Score | Functional impact (reference) | Available at |
---|---|---|---|---|---|
Poly Phen 2* | Sequence- and structure-based approach | Benign | < 0.5 | On the structure and function of a human protein [19] | |
Possibly damaging | ≥0.5 | ||||
Probably damaging | |||||
SIFT | Sequence-based approach | Tolerated | ≥0.05 | On protein function and the physiochemical properties of AA [20]. | http://sift.jcvi.org/ |
Damaging | < 0.05 | ||||
PANTHER | Sequence-based approach | Probably benign | 0 to −3 | Estimates the likelihood of a particular nonsynonymous coding SNP causing a functional impact on the protein [21]. | |
Possibly damaging | <−3 | ||||
Probably damaging | |||||
MutationAssessor | Sequence-based approach | neutral | ≤0.8 | On the substitution of AA in the protein by assessing evolutionary conservation [22]. | http://mutationassessor.org |
low impact | 0.8 to < 1.9 | ||||
medium impact | 1.9 to ≤3.5 | ||||
high impact | > 3.5 | ||||
PROVEAN | Sequence-based approach | Neutral | > − 2.5 | On the biological function of a protein [23]. | |
Deleterious | <−2.5 | ||||
SNAP2 | Sequence- and structure-based approach | Neutral | 100 | On the secondary structure and compares the solvent accessibility of the wild and mutated protein [24]. | |
Effect | − 100 |