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首页> 外文期刊>Journal of Bioinformatics and Computational Biology >HPMV: Human protein mutation viewer - relating sequence mutations to protein sequence architecture and function changes
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HPMV: Human protein mutation viewer - relating sequence mutations to protein sequence architecture and function changes

机译：HPMV：人类蛋白质突变查看器-将序列突变与蛋白质序列结构和功能变化相关

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摘要

Next-generation sequencing advances are rapidly expanding the number of human mutations to be analyzed for causative roles in genetic disorders. Our Human Protein Mutation Viewer (HPMV) is intended to explore the biomolecular mechanistic significance of non-synonymous human mutations in protein-coding genomic regions. The tool helps to assess whether protein mutations affect the occurrence of sequence-architectural features (globular domains, targeting signals, post-translational modification sites, etc.). As input, HPMV accepts protein mutations - as UniProt accessions with mutations (e.g. HGVS nomenclature), genome coordinates, or FASTA sequences. As output, HPMV provides an interactive cartoon showing the mutations in relation to elements of the sequence architecture. A large variety of protein sequence architectural features were selected for their particular relevance to mutation interpretation. Clicking a sequence feature in the cartoon expands a tree view of additional information including multiple sequence alignments of conserved domains and a simple 3D viewer mapping the mutation to known PDB structures, if available. The cartoon is also correlated with a multiple sequence alignment of similar sequences from other organisms. In cases where a mutation is likely to have a straightforward interpretation (e.g. a point mutation disrupting a well-understood targeting signal), this interpretation is suggested. The interactive cartoon can be downloaded as standalone viewer in Java jar format to be saved and viewed later with only a standard Java runtime environment.
机译：下一代测序技术的发展正在迅速扩展人类突变的数量，以分析其在遗传疾病中的致病作用。我们的人类蛋白质突变查看器（HPMV）旨在探讨蛋白质编码基因组区域中非同义人类突变的生物分子机制意义。该工具有助于评估蛋白质突变是否影响序列-结构特征（球形结构域，靶向信号，翻译后修饰位点等）的发生。作为输入，HPMV接受蛋白质突变-作为具有突变（例如HGVS命名法），基因组坐标或FASTA序列的UniProt保藏号。作为输出，HPMV提供了一个交互式动画片，显示了与序列架构元素有关的突变。选择了多种蛋白质序列结构特征，因为它们与突变解释特别相关。单击动画片中的序列特征可展开其他信息的树状视图，其中包括保守域的多个序列比对以及将突变映射到已知PDB结构（如果可用）的简单3D查看器。该动画片还与来自其他生物的相似序列的多序列比对相关。如果突变可能具有简单明了的解释（例如，点突变破坏了众所周知的靶向信号），则建议采用这种解释。交互式卡通可以以Java jar格式作为独立查看器下载，然后保存并仅在标准Java运行时环境中查看。

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