Finding the effect of missense-SNPs on protein structures and functions of HPRT1 using different tools

IF 3.674 4区工程技术 Q1 Engineering

Applied Nanoscience Pub Date : 2023-05-17 DOI:10.1007/s13204-023-02868-5

Mohammed I. Jameel, Mokhtar J. Al-Imam, Ismael H. Mohammed

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引用次数: 0

Abstract

The hypoxanthine–guanine/phosphoribosyl transferase (HGPRT) enzyme is pivotal for purine-nucleotide (IMP) because it catalyzes the transmutation of 6-oxopurinebases to their constituent nucleotides [hypoxanthine to inosine-monophosphate]. In humans, the HPRT1 gene codes for the HGPRT enzyme. LeschNyhan syndrome is an inherited condition induced by a lack of the enzyme-hypoxanthine phosphoribosyl transferase (HPRT). Furthermore, distinguishing harmful nsSNPs with possible disease susceptibility from tolerated mutations is difficult. Various tools and databases are used to anticipate the outcome of mutant genes, then forecast protein stabilization change by one-point mutation, as well as solvent accessibility, secondary-structure, and surface of protein sequence. The 3D structure of a protein is critical for understanding the molecular pathways that cause diseases. The valuation of 3D/structure of the mutant-protein was done by using HOPE in this report. We record the symmetry of 12 possibly deleterious ns-SNPs (L41, S110L, V130D, S104R, G70E, G71R, H204D, D177Y, M143K, G140D, L65F and R48H) in the coding-region of HPRT1 gene.

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利用不同工具发现错义snp对HPRT1蛋白结构和功能的影响

次黄嘌呤-鸟嘌呤/磷酸核糖基转移酶(HGPRT)酶对嘌呤-核苷酸(IMP)至关重要，因为它催化6-氧嘌呤碱基转化为它们的组成核苷酸[次黄嘌呤转化为肌苷-单磷酸]。在人类中，HPRT1基因编码HGPRT酶。LeschNyhan综合征是一种由缺乏次黄嘌呤磷酸核糖基转移酶(HPRT)引起的遗传性疾病。此外，区分可能具有疾病易感性的有害nssnp与耐受突变是困难的。使用各种工具和数据库来预测突变基因的结果，然后预测蛋白质稳定性的变化，以及溶剂可及性，二级结构和蛋白质序列的表面。蛋白质的三维结构对于理解导致疾病的分子途径至关重要。本报告使用HOPE对突变蛋白进行三维/结构评价。我们在HPRT1基因编码区记录了12个可能有害的nsnps (L41、S110L、V130D、S104R、G70E、G71R、H204D、D177Y、M143K、G140D、L65F和R48H)的对称性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Applied Nanoscience Materials Science-Materials Science (miscellaneous)

CiteScore

7.10

自引率

0.00%

发文量

430

期刊介绍： Applied Nanoscience is a hybrid journal that publishes original articles about state of the art nanoscience and the application of emerging nanotechnologies to areas fundamental to building technologically advanced and sustainable civilization, including areas as diverse as water science, advanced materials, energy, electronics, environmental science and medicine. The journal accepts original and review articles as well as book reviews for publication. All the manuscripts are single-blind peer-reviewed for scientific quality and acceptance.