期刊
HUMAN MUTATION
卷 31, 期 2, 页码 127-135出版社
WILEY
DOI: 10.1002/humu.21155
关键词
SM2PH-db; human genetic disease; mutation impact; genotype-phenotype relationship; structural homology model
资金
- French Association against Myopathy via the Decrypthon program [AFM12727-13836]
- EVI-GENORET [LSHG-CT-1005-512036]
- Evol-HHuPro [ANIZ-07-BLAN-0054-02]
- Institut National de la Sante et de la Recherche Medicale
- Centre National de hi Recherche Scientifique
- Universite de Strasbourg
Understanding how genetic alterations affect gene products at the molecular level represents a first step in the elucidation of the complex relationships between genotypic and phenotypic variations, and is thus a major challenge in the postgenomic era. Here, we present SM2PH-db (http://decrypthon.igbmc.fr/sm2ph), a new database designed to investigate structural and functional impacts of missense mutations and their phenotypic effects in the context of human genetic diseases. A wealth of up-to-date interconnected information is provided for each of the 2,249 disease,related entry proteins (August 2009), including data retrieved from biological databases and data generated from a Sequence-Structure-Evolution Inference in Systems-based approach, such as multiple alignments, three, dimensional structural models, and multidimensional (physicochemical, functional, structural, and evolutionary) characterizations of mutations. SM2PH-db provides a robust infrastructure associated with interactive analysis tools supporting in-depth study and interpretation of the molecular consequences of mutations, with the more long-term goal of elucidating the chain of events leading from a molecular defect to its pathology The entire content of SM2PH-db is regularly and automatically updated thanks to a computational grid data federation facilities provided in the context of the Decrypthon program. Hum Mutat 31:127-135, 2010. (C) 2009 Wiley-Liss, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据