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topoSNP:一个包含有无已知疾病关联的非同义单核苷酸多态性的地形数据库。

topoSNP: a topographic database of non-synonymous single nucleotide polymorphisms with and without known disease association.

作者信息

Stitziel Nathan O, Binkowski T Andrew, Tseng Yan Yuan, Kasif Simon, Liang Jie

机构信息

Department of Bioengineering, University of Illinois at Chicago, M/C 063, 851 S. Morgan Street, Chicago, IL 60607, USA.

出版信息

Nucleic Acids Res. 2004 Jan 1;32(Database issue):D520-2. doi: 10.1093/nar/gkh104.

Abstract

The database of topographic mapping of Single Nucleotide Polymorphism (topoSNP) provides an online resource for analyzing non-synonymous SNPs (nsSNPs) that can be mapped onto known 3D structures of proteins. These include disease- associated nsSNPs derived from the Online Mendelian Inheritance in Man (OMIM) database and other nsSNPs derived from dbSNP, a resource at the National Center for Biotechnology Information that catalogs SNPs. TopoSNP further classifies each nsSNP site into three categories based on their geometric location: those located in a surface pocket or an interior void of the protein, those on a convex region or a shallow depressed region, and those that are completely buried in the interior of the protein structure. These unique geometric descriptions provide more detailed mapping of nsSNPs to protein structures. The current release also includes relative entropy of SNPs calculated from multiple sequence alignment as obtained from the Pfam database (a database of protein families and conserved protein motifs) as well as manually adjusted multiple alignments obtained from ClustalW. These structural and conservational data can be useful for studying whether nsSNPs in coding regions are likely to lead to phenotypic changes. TopoSNP includes an interactive structural visualization web interface, as well as downloadable batch data. The database will be updated at regular intervals and can be accessed at: http://gila.bioengr.uic.edu/snp/toposnp.

摘要

单核苷酸多态性地形图谱数据库(topoSNP)提供了一个在线资源,用于分析可映射到已知蛋白质三维结构上的非同义单核苷酸多态性(nsSNPs)。这些包括源自《人类孟德尔遗传在线》(OMIM)数据库的与疾病相关的nsSNPs,以及源自dbSNP的其他nsSNPs,dbSNP是美国国立生物技术信息中心的一个对单核苷酸多态性进行编目的资源库。TopoSNP根据每个nsSNP位点的几何位置将其进一步分为三类:位于蛋白质表面口袋或内部空隙中的位点、位于凸面区域或浅凹陷区域的位点,以及完全埋藏在蛋白质结构内部的位点。这些独特的几何描述为nsSNPs到蛋白质结构提供了更详细的图谱。当前版本还包括从Pfam数据库(一个蛋白质家族和保守蛋白质基序的数据库)获得的多序列比对计算得到的单核苷酸多态性的相对熵,以及从ClustalW获得的手动调整的多序列比对。这些结构和保守性数据对于研究编码区的nsSNPs是否可能导致表型变化可能是有用的。TopoSNP包括一个交互式结构可视化网络界面以及可下载的批量数据。该数据库将定期更新,可通过以下网址访问:http://gila.bioengr.uic.edu/snp/toposnp

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