Literature DB >> 25516408

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

Stefano Castellana1, Judit Rónai, Tommaso Mazza.   

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.
© 2014 WILEY PERIODICALS, INC.

Entities:  

Keywords:  Mitochondrial genome; database; genomics variants; pathogenicity prediction

Mesh:

Substances:

Year:  2014        PMID: 25516408     DOI: 10.1002/humu.22720

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  25 in total

1.  Phylogenetic and population-based approaches to mitogenome variation do not support association with male infertility.

Authors:  Alberto Gómez-Carballa; Jacobo Pardo-Seco; Federico Martinón-Torres; Antonio Salas
Journal:  J Hum Genet       Date:  2016-12-01       Impact factor: 3.172

Review 2.  Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.

Authors:  Lishuang Shen; Elizabeth M McCormick; Colleen Clarke Muraresku; Marni J Falk; Xiaowu Gai
Journal:  Clin Lab Med       Date:  2020-06       Impact factor: 1.935

3.  Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.

Authors:  Hai-Lin Dong; Yin Ma; Quan-Fu Li; Yi-Chu Du; Lu Yang; Sheng Chen; Zhi-Ying Wu
Journal:  CNS Neurosci Ther       Date:  2018-05-13       Impact factor: 5.243

4.  Mitochondrial DNA Mutations are Associated with Ulcerative Colitis Preneoplasia but Tend to be Negatively Selected in Cancer.

Authors:  Kathryn T Baker; Daniela Nachmanson; Shilpa Kumar; Mary J Emond; Cigdem Ussakli; Teresa A Brentnall; Scott R Kennedy; Rosa Ana Risques
Journal:  Mol Cancer Res       Date:  2018-11-16       Impact factor: 5.852

5.  Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

Authors:  Elizabeth M McCormick; Marie T Lott; Matthew C Dulik; Lishuang Shen; Marcella Attimonelli; Ornella Vitale; Amel Karaa; Renkui Bai; Daniel E Pineda-Alvarez; Larry N Singh; Christine M Stanley; Stacey Wong; Anshu Bhardwaj; Daria Merkurjev; Rong Mao; Neal Sondheimer; Shiping Zhang; Vincent Procaccio; Douglas C Wallace; Xiaowu Gai; Marni J Falk
Journal:  Hum Mutat       Date:  2020-11-10       Impact factor: 4.878

6.  Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry.

Authors:  Chunyu Liu; Jessica L Fetterman; Yong Qian; Xianbang Sun; Thomas W Blackwell; Achilleas Pitsillides; Brian E Cade; Heming Wang; Laura M Raffield; Leslie A Lange; Pramod Anugu; Goncalo Abecasis; L Adrienne Cupples; Susan Redline; Adolfo Correa; Ramachandran S Vasan; James G Wilson; Jun Ding; Daniel Levy
Journal:  Mitochondrion       Date:  2021-07-21       Impact factor: 4.534

7.  A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest.

Authors:  Mariangela Santorsola; Claudia Calabrese; Giulia Girolimetti; Maria Angela Diroma; Giuseppe Gasparre; Marcella Attimonelli
Journal:  Hum Genet       Date:  2015-11-30       Impact factor: 4.132

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

Authors:  Yiqin Wang; Martin Picard; Zhenglong Gu
Journal:  PLoS Genet       Date:  2016-10-28       Impact factor: 5.917

9.  A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.

Authors:  Yoshihito Kishita; Kaori Ishikawa; Kazuto Nakada; Jun-Ichi Hayashi; Takuya Fushimi; Masaru Shimura; Masakazu Kohda; Akira Ohtake; Kei Murayama; Yasushi Okazaki
Journal:  Sci Rep       Date:  2021-05-27       Impact factor: 4.379

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

Authors:  Anita Kloss-Brandstätter; Hansi Weissensteiner; Gertraud Erhart; Georg Schäfer; Lukas Forer; Sebastian Schönherr; Dominic Pacher; Christof Seifarth; Andrea Stöckl; Liane Fendt; Irma Sottsas; Helmut Klocker; Christian W Huck; Michael Rasse; Florian Kronenberg; Frank R Kloss
Journal:  PLoS One       Date:  2015-08-11       Impact factor: 3.240

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