Reumers Joke, Maurer-Stroh Sebastian, Schymkowitz Joost, Rousseau Frederic
Switch Laboratory, Flanders Interuniversity, Institute of Biotechnology, Vrije Universiteit, Brussel Pleinlaan 2, Brussels, Belgium.
Bioinformatics. 2006 Sep 1;22(17):2183-5. doi: 10.1093/bioinformatics/btl348. Epub 2006 Jun 29.
Single nucleotide polymorphisms (SNPs) constitute the most fundamental type of genetic variation in human populations. About 75 000 of these reported variations cause an amino acid change in the translated protein. An important goal in genomic research is to understand how this variability affects protein function, and whether or not particular SNPs are associated to disease susceptibility. Accordingly, the SNPeffect database uses sequence- and structure-based bioinformatics tools to predict the effect of non-synonymous SNPs on the molecular phenotype of proteins. SNPeffect analyses the effect of SNPs on three categories of functional properties: (1) structural and thermodynamic properties affecting protein dynamics and stability (2) the integrity of functional and binding sites and (3) changes in posttranslational processing and cellular localization of proteins. The search interface of the database can be used to search specifically for polymorphisms that are predicted to cause a change in one of these properties. Now based on the Ensembl human databases, the SNPeffect database has been remodeled to better fit an automatically updatable structure. The current edition holds the molecular phenotype of 74 567 nsSNPs in 23 426 proteins.
SNPeffect can be accessed through http://snpeffect.vib.be.
单核苷酸多态性（SNP）是人类群体中最基本的遗传变异类型。这些已报道的变异中约有75000种会导致翻译后的蛋白质发生氨基酸变化。基因组研究的一个重要目标是了解这种变异性如何影响蛋白质功能，以及特定的SNP是否与疾病易感性相关。因此，SNPeffect数据库使用基于序列和结构的生物信息学工具来预测非同义SNP对蛋白质分子表型的影响。SNPeffect分析SNP对三类功能特性的影响：（1）影响蛋白质动力学和稳定性的结构和热力学特性；（2）功能和结合位点的完整性；（3）蛋白质翻译后加工和细胞定位的变化。该数据库的搜索界面可用于专门搜索预测会导致这些特性之一发生变化的多态性。现在，基于Ensembl人类数据库，SNPeffect数据库已进行了重新设计，以更好地适应自动更新的结构。当前版本包含23426种蛋白质中74567个非同义SNP的分子表型。
