Statistical and Bioinformatics Analysis of two novel pathogenic mutations.

Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A p-value of <0.05 is considered statistically significant. Novel mutations were analyzed by three computational methods PolyPhen 2 (benign/damaging), SIFT (tolerated/deleterious), and I-Mutant 2.0 (increase stability/decrease stability) for Bioinformatics analysis in order to predict the functional impact of novel amino acid changes. p-value: statistically significant (p<0.05). PolyPhen Prediction Score: benign ≤0.5; probably damaging (0.5<). SIFT Prediction Score: deleterious (≤0.05); tolerated (≥0.05). I-Mutant 2.0 Prediction: sign of DDG: decrease stability or increase stability. Statistical and Bioinformatics Analysis of two novel pathogenic mutations.