Structural classification and pathogenic prediction of mutations in the mtDNA complex III and IV genes (mt-cyb and mt-co1-3, respectively) reported with human disease associations but without known biochemical effects.

Abbreviations: LHON – Leber Hereditary Optic Neuropathy,*also reported as polymorphism,$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.