A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations

Mitochondrion. 2012 Sep;12(5):533-8. doi: 10.1016/j.mito.2012.06.009. Epub 2012 Jul 7.


Assigning pathogenicity to mt-tRNA variants requires multiple strands of evidence. Evolutionary conservation is often considered mandatory, but lack of a standard panel of organisms to assess conservation complicates comparison between reports and undermines the value of conservation-based evidence. We demonstrate that intra-species MTT sequence variation is sufficiently low for sequence data from a single organism to adequately represent a species. On this basis, we propose a standardised panel of organisms for conservation assessment and describe integration of this conservation panel into a pathogenicity scoring system designed to assess mt-tRNA variation associated with mitochondrial disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Conserved Sequence
  • Genes, Mitochondrial*
  • Genetic Variation
  • Humans
  • Mitochondrial Diseases / diagnosis
  • Point Mutation*
  • RNA / genetics*
  • RNA, Mitochondrial
  • RNA, Transfer / genetics*


  • RNA, Mitochondrial
  • RNA
  • RNA, Transfer