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Table 1 Examples of mutations in mitochondrial genes that cause exercise intolerance in humans.

From: The adaptive evolution of the mammalian mitochondrial genome

Gene Mutation Codon Comments References
ND1 Ala→Thr 52   [75]
  Thr→Ala 164   [76]
ND4 Trp→TER 358   [77]
COX1 Trp→TER 6   [78]
COX2 Met→Lys 29 First N-terminal membrane-spanning region of COXII: a structural association of COXII with COXI is necessary to stabilize the binding of heme a3 to COXI. [79]
COX3 Trp→TER 249 Loss of the last 13 amino acids of the highly conserved C-terminal region of this subunit. [80]
  Trp→TER 58   [81]
CYTB Gly→Asp 290 Qo binding pocket [82]
  Gly→Ser 34 Heme bh and Qi binding pocket [83]
  Trp→TER 135   [84]
  Ser→Pro 151 Disrupts helix cd1, Qo site [84]
  Gly→Asp 251 Heme bl [85]
  Ser→Pro 35 Disrupts helix A, Qi pockect [86]