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MitImpact specifications


Unique identifier OMICS_09697
Name MitImpact
Alternative name Mitochondrial mutation Impact
Restrictions to use None
Version 2.0
Maintained Yes


  • Primates
    • Homo sapiens




  • person_outline Tommaso Mazza

Publications for Mitochondrial mutation Impact

MitImpact citations


High confidence assessment of functional impact of human mitochondrial non synonymous genome variations by APOGEE

PLoS Comput Biol
PMCID: 5501658
PMID: 28640805
DOI: 10.1371/journal.pcbi.1005628

[…] the Transformed Functional Impact for Cancer (TransFIC) score [], by providing TransFIC with the SIFT, PolyPhen2 [] and MutationAssessor [] scores, which were already stored in the former release of MitImpact []. TransFIC normalized these scores on a baseline tolerance of genes, which corresponded to the level of tolerance of germline variants occurring in genes with dissimilar functions. Functio […]


Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder

PMCID: 5573912
PMID: 28419775
DOI: 10.1002/aur.1792
call_split See protocol

[…] present in all affected subjects in a family. The mtDNA VOI were confirmed with Sanger sequencing as described [Chapman et al., ]. Pathogenicity prediction and annotation for VOI were determined with MitImpact, a collection of pre‐computed pathogenicity predictions for all nucleotide changes that cause non‐synonymous substitutions in human mitochondrial protein coding genes [Castellana, Ronai, & M […]


A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs

BMC Bioinformatics
PMCID: 5123245
PMID: 28185569
DOI: 10.1186/s12859-016-1193-4
call_split See protocol

[…] ere used to provide annotations for three mitochondrial mutations involving genes coding for an rRNA, a tRNA and a protein, respectively. Web-based versions of mit-o-matic [], MitoBamAnnotator [] and MitImpact 2.0 [] tools were also applied to the same mutations to compare their performance in variant annotation. […]


Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder

PLoS Genet
PMCID: 5085253
PMID: 27792786
DOI: 10.1371/journal.pgen.1006391

[…] Alternative pathogenicity scores were also used for verification, including PolyPhen-2 [], Mutation Assessor [] and MutPred []. PolyPhen-2 scores and Mutation Assessor scores were extracted from the MitImpact2 database (version 2.4) [], and MutPred scores were retrieved from a previous study []. All of them generated pathogenicity scores comparable to CADD scores (). A list of disease-associated, […]


Validation of Next Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma

PLoS One
PMCID: 4532422
PMID: 26262956
DOI: 10.1371/journal.pone.0135643

[…] d with IBM SPSS Statistics (version 22).The immediate consequences (i.e. if the variants were synonymous of caused amino acid exchanges) of the observed mutations were assessed with MitoMaster [] and MitImpact []. The conservation index (C.I.) was obtained from MitoTool []. The highest C.I. is 1, which means this site is completely conservative in 43 primate species. A C.I.-value of 0.651 indicate […]


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MitImpact institution(s)
IRCCS Casa Sollievo della Sofferenza, Istituto Mendel, Bioinformatics Unit Viale Regina Margherita, Roma, Italy

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