Structural classification and pathogenic prediction of mutations in the mtDNA complex III and IV genes (mt-cyb and mt-co1-3, respectively) reported with known human disease associations and biochemical effects.

Abbreviations: Percentage – O2 consumption and mitochondrial complex activities are expressed as percentages relative to published mean control values, further details can be found in the materials and methods, MA – MutationAssessor, EXIT - Exercise Intolerance, ND – No Difference, AIS – Acquired Idiopathic Sideroblastic,$reported as somatic (rather than inherited) mutation, Het – reported as a mixture of wild-type and mutated mtDNAs in affected patients, Hom – reported as mutated mtDNAs only in patients, Het/Homo – reported as heteroplasmy in some patients but or homoplasmy in others.