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Table 2 Comparison between predictors with validation dataset of 1,100 mutations (23 damaging + 1,077 neutral)

From: Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides

 

MITOCLASS.1

POLYPHEN-2

PROVEAN

MUTPRED

Sensitivity

95.7

91.3/94.7

91.3/87.7

60.9/57.9

Specificity

58.7

47.7/46.9

60.4/59.2

85.6/87.3

TP

22

21/54

21/50

14/33

TN

623

514/1303

650/1646

922/2426

FP

454

563/1475

427/1132

155/352

FN

1

2/3

2/7

9/24

  1. For PolyPhen-2, Provean and Mutpred, the complete mdmv.1 dataset has also been analyzed (numbers after the slash). PolyPhen-2 is unable to predict the phenotype of 10 missense mutations because much of the initial and final sequence of p.MT-ND5 is non-aligneable due to large stretches of repeats and/or high compositional biases as commented by authors. For the sake of comparison, we consider these unknown predictions as neutral variants. TP, TN, FP, FN refers to true positives, true negatives, false positives and false negatives respectively. Sensitivity is estimated as [TP/(TP + FN)], specificity as [TN/(TN + FP)]