In silico Analysis of Single Nucleotide Polymorphisms (SNPs) in HumanVCAM-1 gene
作者: Tyseer Alabid
刊名: JSM Bioinformatics, Genomics and Proteomics, 2016, Vol.1 (1)
来源数据库: JSciMed Central Journals
关键词: SCAVCAM1 geneSNPIn silico analysis
原始语种摘要: Homozygosity for the hemoglobin S (Hb S) mutation, as well as a number of heterozygous states involving one gene encoding Hb S, lead to shortened red blood cell survival and hemolysis in sickle cell disease. Variants of the VCAM1 gene could be informative genetic modifiers of phenotypic differences in SS disease. In this work, we have analyzed the genetic variation that can alter the expression and the function in VCAM-1 gene using computational methods. Out of the total 1450 SNPs in Homo sapiens 254 were missense, 255 were non-synonymous SNPs, 207 were synonymous SNPs, 53 were in the 3’un-translated region and 23 were in the 5’un-translated region of the nsSNPs67 SNPs (26.7%) were found to be damaging by both SIFT and Poly Phen server among the 255 ns SNPs investigated. In I-Mutant 3.0,...
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  • region 地域
  • functional 功能的
  • synonymous 同意义的
  • genetic 遗传的
  • disrupted 断线状
  • expression 表示
  • protein 蛋白质
  • heterozygous 杂合的
  • sickle 切割器镰刀
  • related 有关的