How to assess the functional potential of mutations in RNA genes from mitochondrial DNA?

09 September 2013 1 7K Report

From the analysis of about 500 publicly available whole human mtDNAs sequences I identified a number of Single Nucleotide Polymorphisms (SNPs). Some of these fall in the tRNA regions. How to assess the functional potential of such mutations?

Daniel Helbling

It is much more complicated than functional potential. Most mito mtDNA variants are dependent upon there heteroplasmy level to determine pathogenicity and are tissue specific. Also don't confuse mutations/variants and polymorphisms. The vast majority of these terms are not interchangeable.

Start at http://www.mitomap.org/MITOMAP

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