MitImpact: An exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants

Research output: Contribution to journalArticlepeer-review

Abstract

Mitochondrial DNA carries a tiny, but fundamental portion of the eukaryotic genetic code. As its nuclear counterpart, it is susceptible to point mutations. Their level of pathogenicity has been assessed for the newly discovered mutations only, leaving some degree of uncertainty on the potential impact of the unknown mutations. Here we present Mitochondrial mutation Impact (MitImpact), a queryable lightweight web interface to a reasoned collection of structurally and evolutionary annotated pathogenicity predictions, obtained by assembling pre-computed with on-the-fly-computed sets of pathogenicity estimations, for all the possible mitochondrial missense variants. It presents itself as a resource for fast and reliable evaluation of gene-specific susceptibility of unknown and verified amino acid changes. MitImpact is freely available at http://bioinformatics.css-mendel.it/ (tools section).

Original languageEnglish
Pages (from-to)E2413-E2422
JournalHuman Mutation
Volume36
Issue number2
DOIs
Publication statusPublished - Feb 1 2015

Keywords

  • Database
  • Genomics variants
  • Mitochondrial genome
  • Pathogenicity prediction

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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