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Table 4 Feature values for rare missense mutations without clear evidences of pathogenicity classified as damaging mutations by Mitoclass.1

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

rCRS Mut AA subs/PP/Dom F1 F2 F3 Freq Ho/He DamPre
m.4633C > G p.A55G/p.MT-ND2/TM 127.5 2.33 12.66 0 Ho 4
m.4648 T > C p.F60S/p.MT-ND2/TM 113.7 0.02 4.22 0 Ho 4
m.5244G > A p.G259S/p.MT-ND2/TM 138.9 1.01 23.65 0 He 4
m.6742 T > C p.I280T/p.MT-CO1/TM 99.7 0.02 9.22 0 He 3
m.8528 T > C p.W55R/p.MT-ATP8/M 102.6 0.04 14.99 0 He 4
m.8795A > G p.H90R/p.MT-ATP6/TM 73.8 0 0.66 0 He 4
m.9972A > C p.I256L/p.MT-CO3/IM 112.3 0.97 25.85 1 He 1
m.10543A > G p.H25R/p.MT-ND4L/TM 150.5 2.57 0.66 0 He 4
m.10591 T > G p.F41C/p.MT-ND4L/TM 134.9 0.02 1.08 0 He 3
m.12848C > T p.A171V/p.MT-ND5/TM 164.3 0.16 8.93 0 He 3
m.13051G > A p.G239S/p.MT-ND5/TM 163.9 0.02 23.65 0 Ho 4
m.13511A > T p.K392M/p.MT-ND5/TM 98.9 0,02 3.24 0 He 4
m.13849A > C p.N505H/p.MT-ND5/TM 61.8 0.27 5.24 0 Ho 2
m.14430A > G p.W82R/p.MT-ND6/M 99.2 0.19 14.99 0 Ho 3
m.14498 T > C p.Y59C/p.MT-ND6/TM 143.9 0.04 2.97 0 He 3
m.15243G > A p.G166E/p.MT-CYB/IM 115.6 0 11.92 0 He 4
  Mean 118.8 0.48 10.25    
  Mean of neutral variants from validation dataset 80.1 7.90 12.70    
  1. rCRS Mut, AA subs, PP, Dom, F1, F2, F3, Freq, Ho/He and DamPre code for position of the mutation according to the revised Cambridge Reference Sequence, amino acid substitution, polypeptide, domain, Feature 1–3 scores, frequency, Homoplasmy/Heteroplasmy, and number of predictors that consider damaging this amino acid substitution, respectively