title: MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants.
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). ©2014 Wiley Periodicals, Inc.
authors.affiliation: IRCCS Casa Sollievo della Sofferenza, Istituto Mendel, Bioinformatics Unit. Viale Regina Margherita, 261. 00198, Roma, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Castellana
authors.forename: Judit
authors.initials: J
authors.lastname: Rónai
authors.forename: Tommaso
authors.initials: T
authors.lastname: Mazza
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D030541:Databases, Genetic; D006801:Humans; D008928:Mitochondria / Q000235:genetics; D028361:Mitochondrial Diseases / Q000235:genetics*; D008957:Models, Genetic; D017354:Point Mutation; D014584:User-Computer Interface
chemical_list: D004272:DNA, Mitochondrial
keywords: Mitochondrial genome; database; genomics variants; pathogenicity prediction