DMDM: domain mapping of disease mutations
DMDM: domain mapping of disease mutations
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DOI：
10.1093/bioinformatics/btq447
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发表时间：
2010-10-01
期刊：
影响因子：
5.8
通讯作者：
Kann, Maricel G.
中科院分区：
文献类型：
--
作者：
Peterson, Thomas A.;Adadey, Asa;Kann, Maricel G.
疾病突变的结构域映射（DMDM）是一个数据库，其中每个疾病突变可以通过其基因，蛋白质或结构域位置显示。DMDM提供了一个独特的结构域水平视图，其中所有人类编码突变都映射到蛋白质结构域。为了构建DMDM，使用基于隐马尔可夫模型的序列比对工具（HMMer）将所有人蛋白质与保守蛋白质结构域的数据库进行比对。所得到的蛋白质结构域比对用于提供所有可用的人类疾病突变和多态性的结构域位置。每个结构域位置中的疾病突变和多态性的数量与其他相关功能信息一起显示（例如，G.该位点的结合和催化活性以及该结构域位置的保守性）。DMDM的蛋白质结构域视图突出了不同疾病突变之间的分子关系，这些突变可能无法用传统的以基因为中心的可视化工具清楚地观察到。
Domain mapping of disease mutations (DMDM) is a database in which each disease mutation can be displayed by its gene, protein or domain location. DMDM provides a unique domain-level view where all human coding mutations are mapped on the protein domain. To build DMDM, all human proteins were aligned to a database of conserved protein domains using a Hidden Markov Model-based sequence alignment tool (HMMer). The resulting protein-domain alignments were used to provide a domain location for all available human disease mutations and polymorphisms. The number of disease mutations and polymorphisms in each domain position are displayed alongside other relevant functional information (e. g. the binding and catalytic activity of the site and the conservation of that domain location). DMDM's protein domain view highlights molecular relationships among mutations from different diseases that might not be clearly observed with traditional gene-centric visualization tools.