[27-08-2024] MitImpact 3D 3.1.3 released today, with minor fixes in the search engine and vcf annotator. Uptated MITOMAP, ClinVar, and dbSNP. Added OMIM and HGNC ids, and HGVS-based description of variants to help diagnosis reporting. Added AlphaMissense predictions. Added ToMMo 54KJPN allelic frequencies (see the Output legend page)

[27-02-2024] We announce the alpha release of the APOGEE pathogenicity prediction scores of tRNA variants. The bulk download of all possible tRNA variants is available from the Download menu in the top-right corner. The file contains a pathogenicity score for each variant (0 = benign, 1 = pathogenic) and an "out-of-bag" unbiased score that we recommend and that scores correctly the variants of the training set. Give us your feedbacks!

[23-08-2023] A paper entitled APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants was just published in Nature Communications and is available here!

[18-08-2028] MitImpact 3D 3.1.2 released today, with minor fixes of HelixMTdb frequency values, MITOMAP updated (accessed on July, 1st), and intra-VUS soft thresholds introduced (see the Description page)

[25-06-2023] MitImpact 3D 3.1.1 released today, with minor fixes to the conservation scores, SIFT4G added, and APOGEE1 reintroduced for backward compatibility.

[20-06-2023] A preprint entitled APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants was just published [link]

[30-11-2022] Today we have released MitImpact 3D version 3.1.0. It contains the new APOGEE 2 scores, hazards, and five pathogenicity classes. More info in description. MitImpact and APOGEE are freely available for non-commercial purposes. Check the license in the menu bar above.

[12-07-2022] MitImpact 3D 3.0.8 released today, with minor fixes on the pathogenicity thresholds and the update of ClinVar and MITOMAP (July 2022). We have added HelixMTdb annotations.

[19-10-2021] MitImpact 3D 3.0.7 released today, with minor fixes to the search engine and some updates to ClinVar (October 2021), dbSNP (ver. 155), gnomAD (ver. 3.1), and MITOMAP (October update). Let's check the output legend.

[09-12-2020] Nucleic Acids Research just published our paper entitled MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits [link]

[02-10-2020] MitImpact 3D 3.0.6 released today, with minor fixes to the flat file database version, tooltips that help interpret scores in the result page, and 2 tutorial-like case studies which simulate typical uses of MitImpact.

[03-09-2020] As for our users requests, we have added the possibility to directly search for a variant and then show up its information in the first tab of the result page. We have also provided this function through a restful api, as explained in the Description page. Let's try it typing http://mitimpact.css-mendel.it/search_allele/6253/T>A or http://mitimpact.css-mendel.it/search_allele/6253/T>C in your browser.

[04-08-2020] MitImpact 3D 3.0.5 released today! Minor fixes and some updates to our frequency and phenotype databases (dbSNP 152, ClinVar March 2020, COSMIC 90, MITOMAP February 2020).

[01-02-2020] MitImpact 3D 3.0.2 released today! Molecular dynamics are now added for selected mutations. A list is available here.

[08-06-2019] MitImpact 3D released today! It features a revamped results page with more info and visualizations available for each query, and the addition of Compensated Pathogenic Deviations (CPD), ΔΔG energy changes, InterP and IntraP covariation analysis, EV Mutation score.

[22-06-2017] PLoS Comput Biol. publishes our paper entitled: High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE. [link]

[30-01-2017] MitImpact 2.7 released today! New annotations and bug fixes are available.

[07-07-2016] MitImpact 2.5 released today!

[20-04-2016] Methods Mol Biol. publishes our chapter entitled: A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants. [link]

[19-01-2016] MitImpact 2.4 released today! Several new annotations are available.

[18-01-2016] Improved the programmatic access to data through the new RESTfull interface.

[01-02-2015] Human Mutations journal publishes our paper: "MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants". [link]

[10-01-2014] MitImpact 1.0 launch!
MitImpact annotates all the possible mutations in the 13 mitochondrial proteins by 5 missense pathogenicity predictors, 2 consensus scores aggregators and 5 sources of functional evidences. Variants can be searched by genomic locations, dbSNP ID and gene or protein prositions.