Castellana Stefano, Rónai Judit, Mazza Tommaso
IRCCS Casa Sollievo della Sofferenza, Istituto Mendel, Bioinformatics Unit. Viale Regina Margherita, 261. 00198, Roma, Italy.
Hum Mutat. 2015 Feb;36(2):E2413-22. doi: 10.1002/humu.22720. Epub 2014 Dec 17.
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.
线粒体DNA携带了真核生物遗传密码中微小但至关重要的一部分。与细胞核中的对应物一样,它容易发生点突变。目前仅对新发现的突变评估了其致病性水平,未知突变的潜在影响仍存在一定程度的不确定性。在此,我们展示了线粒体突变影响(MitImpact),这是一个可查询的轻量级网络界面,它通过组装预先计算的和即时计算的致病性估计集,针对所有可能的线粒体错义变体,提供了一个经过合理整理的、具有结构和进化注释的致病性预测集合。它是一个用于快速可靠评估未知和已验证氨基酸变化的基因特异性易感性的资源。MitImpact可在http://bioinformatics.css-mendel.it/(工具部分)免费获取。©2014威利期刊公司。