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Table 5 Non-synonymous variants predicted to disrupt gene products associated with oxidative phosphorylation

From: Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study

Position Variant Gene Amino acid variant MToolBox score PolyPhen2 score Mutation taster SIFT score High lactate Normal lactate MitoMap frequencya
7080 T>C COI Phe393Leu 0.695 0.99 0.99 0.16 0 1 1
8027 G>A COII Ala148Thr 0.635 1.00 1.00 0.61 4 3 477
8417 C>T ATP8 Leu18Phe 0.713 0.99 1.00 0.45 2 0 29
8460 A>G ATP8 Asn32Ser 0.627 0.97 1.00 0.50 4 1 182
8582 C>T ATP6 Ala19Val 0.697 1.00 1.00 0.04 0 2 29
8668 T>C ATP6 Trp48Arg 0.816 1.00 1.00 0.34 0 1 12
9055 G>A ATP6 Ala177Thr 0.533 0.51 1.00 0.55 1 1 9
10,086 A>G ND3 Asn10Asp 0.594 0.90 1.00 0.02 9 5 160
11,172 A>G ND4 Asn138Ser 0.769 0.03 1.00 0.41 4 1 182
12,092 C>A ND4 Leu445Ile 0.666 0.02 1.00 0.40 0 1 5
12,814 G>A ND5 Ala160Thr 0.688 0.73 1.00 0.39 0 1 2
13,651 A>G ND5 Thr439Ala 0.690 0.08 1.00 0.52 1 0 51
13,789 T>C ND5 Tyr485His 0.714 0.17 1.00 0.50 4 2 720
14,000 T>A ND5 Leu555Gln 0.675 0.95 1.00 0.31 4 2 465
15,030 T>A Cyto-b Phe95Tyr 0.491 0.52 1.00 1.00 2 2 Novel
  1. For each variant, the number of individuals with the variant in the high lactate and normal lactate groups is shown. The frequency of each variant in the MitoMap database for individuals with a predicted L0–L5 haplotype is also shown
  2. aMitoMap frequency for the L0–L5 haplotypes. A total of 4025 individuals with a predicted L0–L5 haplotype are present in the Mitomap database (https://www.mitomap.org). For MToolBox, PolyPhen2, and Mutation Taster a higher score predicts a disruptive variant. For SIFT, a lower score predicts a disruptive variant