应用点突变预测程序(SIFT)检查MLH1蛋白质中的结肠癌相关点突变

Screening HNPCC related missense mutations in MLH1 protein with mutation prediction software-SIFT

目的:分析MLH1蛋白质序列上的结肠癌相关点突变,并确定突变对蛋白质功能的影响程度。方法:通过SIFT(Sorting Intolerant From Tolerant)程序来评价和预测点突变对蛋白质功能的影响。结果:MLH1蛋白序列含有756个氨基酸,已确定的突变82个,其中和结肠癌相关的点突变有74个。23个结肠癌相关点突变属于严重等级,14个属于中度影响等级,剩下的37个点突变属于良性等级。结论:运用SIFT程序可迅速准确地预测p53蛋白质序列上的结肠癌相关点突变。

Objective：To analyze eoloreetal cancer related missense mutations in MLH1 protein sequences, and determine the effect of mutations on protein function.Methods：Evaluated and predicted the effects of mutations on protein function with SIFT （Sorting Intolerant From Tolerant） program.Results：MLH1 protein sequence was composed of 756 amino acids,82 mutations were determined, where 74 mutations wer correlated to eoloreetal eaneer（CC）.23 in 74 CC related mutations were evaluated as deleterious, 14 mutations as mild and 37 mutations as tolerant.Conclusion：SIFT program can evaluate mutations in protein sequence rapidly and accurately.