2.3. Pathogenicity prediction of mutation sites and analysis of protein function impact

FX Fei Xie
LL Lei Lei
BC Bin Cai
LG Lu Gan
YG Yu Gao
XL Xiaoying Liu
LZ Lin Zhou
JJ Jinjin Jiang
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Applied Protein Variation Effect Analyzer (http://provean.jcvi.org/index.php), Sorting Intolerant from Tolerant (http://sift.jcvi.org), PolyPhen‐2 (http://genetics.bwh.harvard.edu/pph2), and Mutation Taster (http://Mutationtaster.org) for predictive analysis of protein and structural hazards. For the prediction of gene effect on protein structure, we use the following three‐dimensional protein structure model to forecast (http://www.proteinmodelportal.org).

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