Bromberg Yana, Yachdav Guy, Rost Burkhard
Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY 10032, USA.
Bioinformatics. 2008 Oct 15;24(20):2397-8. doi: 10.1093/bioinformatics/btn435. Epub 2008 Aug 30.
Many non-synonymous single nucleotide polymorphisms (nsSNPs) in humans are suspected to impact protein function. Here, we present a publicly available server implementation of the method SNAP (screening for non-acceptable polymorphisms) that predicts the functional effects of single amino acid substitutions. SNAP identifies over 80% of the non-neutral mutations at 77% accuracy and over 76% of the neutral mutations at 80% accuracy at its default threshold. Each prediction is associated with a reliability index that correlates with accuracy and thereby enables experimentalists to zoom into the most promising predictions.
人类中许多非同义单核苷酸多态性(nsSNPs)被怀疑会影响蛋白质功能。在此,我们展示了一种名为SNAP(筛选不可接受多态性)方法的公开可用服务器实现,该方法可预测单个氨基酸替换的功能效应。在默认阈值下,SNAP能以77%的准确率识别超过80%的非中性突变,并以80%的准确率识别超过76%的中性突变。每个预测都与一个可靠性指数相关,该指数与准确率相关,从而使实验人员能够聚焦于最有希望的预测。