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Table 1 Bioinformatics tools for in silico analysis

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]

http://genetics.Bwh.harvard.edu/pph2/index.shtml

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].

http://www.pantherdb.org/tools/csnpScoreForm.jsp

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].

http://provean.jcvi.org/index.php

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].

https://rostlab.org/services/snap2web

Effect

− 100

  1. *, “HumDiv” is the default Classifier model used by probabilistic predictor; it is preferred for evaluating rare alleles, dense mapping of regions identified by genome-wide association studies, and analysis of natural selection. “HumVar” is better suited for diagnostics of Mendelian diseases, which requires distinguishing mutations with drastic effects from all the remaining human variation, including abundant mildly deleterious alleles