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Article

Quaternary protein modeling to predict the function of DNA variation found in human mitochondrial cytochrome c oxidase.

Journal of human genetics - 1 Mar 2013

Horan Martin Patrick, Rumbley Jon N, Melvin Richard G, Le Couteur David G, Ballard J William O

Abstract excerpt

Cytochrome c oxidase (COX) of the electron transport system is thought to be the rate-limiting step in cellular respiration and is found mutated in numerous human pathologies. Here, we employ quaternary three-dimensional (3-D) modeling to construct a model for human COX. The model was used to predict the functional consequences of amino-acid mutations based on phylogenetic conservation of amino acids together...

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PMID: 23303385
DOI: 10.1038/jhg.2012.144

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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