Sr. No | Variants Identified | Residue Conservation Score (ConSurf) | Pathogenicity Score (Predict SNP pathogenicity %) [SIFT, PolyPhen2 score] | Homology modelling based analysis | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 |  |  | Predict SNP | Ph.D SNP | PolyPhen2 | SIFT | SNAP | H-bond interactions (5A region around the mutation site) | Protein Stability (DUET) | Protein local flexibility (DynaMut) | |||
1 | c.1514C > G (p.Ser489Trp) | Highly conserved across 147 species SCORE = 9 | 72% | 82% | 81% [1] | 53% [0.002] | 81% | Decreased from 136 to 116 | (ΔΔG): -0.516 kcal/mol (Destabilizing) | ΔΔSVib ENCoM: -1.717 kcal.mol−1.K−1 (Decrease of molecule flexibility) | |||
2 | c.1487G > T (p.Ser480Ile) | Highly conserved across 132 species | 87% | 88% | 81% [1] | 79% [0.003] | 81% | Decreased from 15 to 13 | ΔΔG: -0.17 (Destabilizing) | ΔΔSVib ENCoM: -0.557 kcal.mol−1.K−1 (Decrease of molecule flexibility) | |||
3 | c.2653C > T (p.Arg869Cys) | Highly conserved across 150 species SCORE = 8 | 87% | 82% | 81% [1] | 79% [0.000] | 85% | Decreased from 15 to 13 | ΔΔG -1.012 kcal/mol (Destabilizing) | ΔΔSVib ENCoM: 0.188 kcal.mol−1.K−1 (Increase of molecule flexibility) |