Statistical and Bioinformatics Analysis of two novel pathogenic mutations.

<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</i>-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><p><i>p</i>-value: statistically significant (<i>p</i><0.05).</p><p>PolyPhen Prediction Score: benign ≤0.5; probably damaging (0.5<).</p><p>SIFT Prediction Score: deleterious (≤0.05); tolerated (≥0.05).</p><p>I-Mutant 2.0 Prediction: sign of DDG: decrease stability or increase stability.</p><p>Statistical and Bioinformatics Analysis of two novel pathogenic mutations.