fa تحقيقي Original Paper <div> <p><strong>ABSTRACT</strong></p> <p><strong>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; Background and Objective:</strong> Genetic variations in the gene encoding endothelial nitric oxide synthase (eNOS) enzyme affect the susceptibility to cardiovascular disease. Identification of the way these changes affect eNOS structure and function in laboratory conditions is difficult and time-consuming. Thus, it seems essential to perform bioinformatics studies prior to laboratory studies to find&nbsp; the variants that are more important. This study aimed to predict the damaging effect of changes in the coding region of eNOS using homology- and structure-based algorithms (SIFT and PolyPhen).</p> <p><strong>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; Methods: </strong>First, the single nucleotide polymorphisms in the coding region (cSNPs) of the human eNOS gene were extracted from dbSNP. Resulting amino acid changes were reported as primary data required for the study. Then, position and type of amino acid changes along with the complete amino acid sequence were separately entered into the SIFT and PolyPhen tools for analysis.</p> <p><strong>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; Results:</strong> Of 144 single nucleotide changes, 38 changes by the SIFT, 47 changes by the PolyPhen and 18 amino acid substitutions by both tools were predicted as damaging.</p> <p><strong>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; Conclusion:</strong> It is predicted that 18 amino acid changes may have damaging phenotypic effects on the structure of the eNOS enzyme that may affect its performance by potentially affecting the enzyme&rsquo;s various functional regions. Therefore, computational prediction of potentially damaging nsSNPs and prioritizing amino acid changes may be useful for investigating protein performance using targeted re-sequencing and gene mutagenesis experiments.</p> <p><strong>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; </strong></p> </div> eNOS, Non-synonymous SNP, Functional impacts. 1 5 http://mlj.goums.ac.ir/browse.php?a_code=A-10-1-397&slc_lang=fa&sid=1 Esmaeil Samadian 100319475328460020119 100319475328460020119 Yes Department of Molecular Medicine Ayyoob Khosravi 100319475328460020120 100319475328460020120 No Department of Molecular Medicine Roghaye Gharae 100319475328460020121 100319475328460020121 No Laboratory Sciences Research Center Mostafa Mir 100319475328460020122 100319475328460020122 No Department of Clinical Biochemistry Seyed Ahmad Sajjadi 100319475328460020123 100319475328460020123 No Reference Laboratory Fahimeh Mohammad Abadi 100319475328460020124 100319475328460020124 No Department of Clinical Biochemistry Nader Hashemi 100319475328460020125 100319475328460020125 No Department of Clinical Biochemistry Sahar Alijanpour 100319475328460020126 100319475328460020126 No department of medical genetics, Faculty of advanced medical technologies, Golestan university of medical sciences, Gorgan, Iran Hamid Reza Joshaghani joshaghanihamidreza@gmail.com 100319475328460020127 100319475328460020127 No Laboratory Sciences Research Center, Golestan University of Medical Science, Gorgan, Iran