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Medical Laboratory Journal، جلد ۱۰، شماره ۳، صفحات ۱-۵
عنوان فارسی
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کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Computational Prediction of the Effects of Single Nucleotide Polymorphisms of the Gene Encoding Human Endothelial Nitric Oxide Synthase
چکیده انگلیسی مقاله ABSTRACT Introduction: 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 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). Methods: 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. Results: 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. Conclusion: 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’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.
کلیدواژه‌های انگلیسی مقاله eNOS, Non-synonymous SNP, Functional impacts.
نویسندگان مقاله اسماعیل صمدیان | esmaeil samadian
faculty of advanced medical technologies, golestan university of medical sciences, gorgan, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی گلستان (Golestan university of medical sciences)

ایوب خسروی | ayyoob khosravi
faculty of advanced medical technologies, student research committee, golestan university of medical sciences, gorgan, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی گلستان (Golestan university of medical sciences)

رقیه قرایی | roghaye gharae
golestan university of medical sciences, gorgan, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی گلستان (Golestan university of medical sciences)

مصطفی میر | mostafa mir
faculty of medicine, babol university of medical sciences, babol, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بابل (Babol university of medical sciences)

سید احمد سجادی | seyed ahmad sajjadi
golestan university of medical sciences, gorgan, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی گلستان (Golestan university of medical sciences)

فهیمه محمدآبادی | fahimeh mohammad abadi
faculty of medicine, gorgan university of medical sciences, gorgan, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی گلستان (Golestan university of medical sciences)

نادر هاشمی | nader hashemi
department of clinical biochemistry


حمیدرضا جوشقانی | hamid reza joshaghani
golestan university of medical sciences, gorgan, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی گلستان (Golestan university of medical sciences)

نشانی اینترنتی http://www.goums.ac.ir/mljgoums/browse.php?a_code=A-10-1-397&slc_lang=fa&sid=fa
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