Prediction of mutation effect on protein function.

A coding sequence mutation can damage or preserve the function of the related protein. Several bioinformatics algorithms have been developed to predict the effect of mutations. We used 2 independent methods based on different assumptions. SIFT prediction is based on the degree of conservation of amino acid residues in sequence alignments derived from closely related species. Polyphen2 prediction is based on various sequence and structure-based features of the substitution site.