Additional file 12: Table S9. of Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides

Amino acid substitutions with no clear evidences of pathogenicity. Mutations are described by the polypeptide amino acid position (AA Position), wild type amino acid (WT AA), mutant amino acid (MUT AA) and affected gene (Gene). Predicted phenotype of Mitoclass.1 is included. The next four columns summarize the prediction result (P, positive/damaging; N, negative/neutral) for the four tested predictors. The last column (Count) indicates the number of predictors with the same damaging phenotype output. (XLS 31 kb)

无明确致病性证据的氨基酸置换。该数据集内的突变以多肽氨基酸位点（AA Position）、野生型氨基酸（WT AA）、突变型氨基酸（MUT AA）以及受影响基因（Gene）进行标注。已纳入Mitoclass.1的预测表型结果。后续四列汇总了四种经测试的预测工具的预测结果（P代表阳性/致病性，N代表阴性/中性）。最后一列（Count）用于统计输出相同致病性表型的预测工具数量。（XLS 31 KB）