Statistical and Bioinformatics Analysis of two novel pathogenic mutations.
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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.
创建时间：
2014-09-12
