Predicting deleterious amino acid substitutions
Predicting deleterious amino acid substitutions
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DOI：
10.1101/gr.176601
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发表时间：
2001-05-01
期刊：
影响因子：
7
通讯作者：
Henikoff, S
中科院分区：
文献类型：
--
作者：
Ng, PC;Henikoff, S
在单核苷酸多态性（SNP）数据和大规模随机诱变项目中鉴定出许多错义取代。每个氨基酸取代都可能影响蛋白质功能。我们已经构建了一种使用序列同源性来预测替代是否影响蛋白质功能的工具。筛分不容忍宽容的替代，将替换归为耐受性或有害性。在三种测试案例中，通过替代得分矩阵有害的替代品比预测的替代品的替代率更高，在三个测试案例中，诱变研究可能会减少所需的功能分析的数量，并产生更高比例的受影响比例表型。 SIFT可用于鉴定引起错义取代的SNP中的合理疾病。
Many missense substitutions are identified in single nucleotide polymorphism (SNP) data and large-scale random mutagenesis projects. Each amino acid substitution potentially affects protein Function. We have constructed a tool that uses sequence homology to predict whether a substitution affects protein function. SIFT, which sorts intolerant from tolerant substitutions, classifies substitutions as tolerated or deleterious. A higher proportion of substitutions predicted to be deleterious by SIFT gives an affected phenotype than substitutions predicted to be deleterious by substitution scoring matrices in three test cases, Using SIFT before mutagenesis studies could reduce the number of functional assays required and yield a higher proportion of affected phenotypes. SIFT may be used to identify plausible disease candidates among the SNPs that cause missense substitutions.