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Background frames AKT1 as a serine/threonine kinase central to apoptosis, angiogenesis, metabolism, and cell proliferation, with gene mutations linked to multiple cancers and other diseases. Methods apply extensive computational (in silico) analyses to screen damaging nsSNPs and infer associations with cancers. Results report 12 highly deleterious SNPs, including conserved residues and liver-cancer association. Findings support applications in pharmacogenomics, molecular diagnosis, and inhibitor development.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":40,"@type":76,"position":81},"https://docshare.wps.com/document/research-report/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/discovering-deleterious-single-nucleotide-polymorphisms-of-human-akt1-oncogene-an-in-silico-study/377053/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/discovering-deleterious-single-nucleotide-polymorphisms-of-human-akt1-oncogene-an-in-silico-study/377053.png","ImageObject",300,407,{"name":92,"@type":93},"Quinn Holloway","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-09-25","2026-09-24",true,{"@type":102,"interactionType":103,"userInteractionCount":14},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What is the main goal of the in silico AKT1 study?","Question",{"text":112,"@type":113},"To identify deleterious AKT1 missense SNPs and predict their effects on AKT1 protein structure and function using computational tools.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How many highly deleterious SNPs were identified, and what key examples were highlighted?",{"text":117,"@type":113},"Twelve highly deleterious SNPs were reported. Four—G157R, G159V, G336D, and H265Y—were predicted at highly conserved residues, and G157R was suggested to affect ligand binding.",{"name":119,"@type":110,"acceptedAnswer":120},"What downstream applications does the study suggest?",{"text":121,"@type":113},"The results are described as useful for pharmacogenomics, molecular diagnosis of diseases, and developing inhibitors of the AKT1 oncogene.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},377053,1790313564,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":39,"category_name":40,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":14,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":139,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145},2336474466712,"https://ap-avatar.wpscdn.com/davatar_a8503ba1806abce46bf441b54a3ca4cd","life  \nArticle  \nDiscovering Deleterious Single Nucleotide Polymorphisms of Human AKT1 Oncogene: An In Silico Study  \nRuojun Zhang 1, Nahid Akhtar 2, Atif Khurshid Wani 2, Khalid Raza 3, * and Vikas Kaushik 2, *  \nCitation: Zhang, R.; Akhtar, N.; Wani, A.K.; Raza, K.; Kaushik, V. Discovering Deleterious Single Nucleotide Polymorphisms of Human AKT1 Oncogene: An In Silico  \nStudy. Life 2023, 13, 1532. [https://](https://)[ ](https://)[doi.org/10.3390/life13071532](doi.org/10.3390/life13071532)  \nAcademic Editors: Zijun Yidan Xu-Monette and Barbara Illi  \nReceived: 12 March 2023  \nRevised: 11 June 2023  \nAccepted: 12 June 2023  \nPublished: 10 July 2023  \nCopyright: © 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) .  \n1 School of Life Sciences and Technology, Tongji University, Shanghai 200092, China  \n2 School of Bioengineering and Biosciences, Lovely Professional University, Phagwara 144411, India  \n3 Department of Computer Science, Jamia Millia Islamia, New Delhi 110025, India  \n* Correspondence: [kraza@jmi.ac.in](kraza@jmi.ac.in) (K.R.); [vikas31bt@gmail.com](vikas31bt@gmail.com) (V.K.)  \nAbstract: Background: AKT1 is a serine/threonine kinase necessary for the mediation of apoptosis, angiogenesis, metabolism, and cell proliferation in both normal and cancerous cells. The mutations in the AKT1 gene have been associated with different types of cancer. Further, the AKT1 gene mutations are also reported to be associated with other diseases such as Proteus syndrome and Cowden syndromes. Hence, this study aims to identify the deleterious AKT1 missense SNPs and predict their effect on the function and structure of the AKT1 protein using various computational tools. Methods: Extensive in silico approaches were applied to identify deleterious SNPs of the human AKT1 gene and assessment of their impact on the function and structure of the AKT1 protein. The association of these highly deleterious missense SNPs with different forms of cancers was also analyzed. The in silico approach can help in reducing the cost and time required to identify SNPs associated with diseases. Results: In this study, 12 highly deleterious SNPs were identified which could affect the structure and function of the AKT1 protein. Out of the 12, four SNPs—namely, G157R, G159V, G336D, and H265Y—were predicted to be located at highly conserved residues. G157R could affect the ligand binding to the AKT1 protein. Another highly deleterious SNP, R273Q, was predicted to be associated with liver cancer. Conclusions: This study can be useful for pharmacogenomics, molecular diagnosis of diseases, and developing inhibitors of the AKT1 oncogene.  \nKeywords: SNPs; oncogene; AKT1; kinase  \n1. Introduction  \nIn-depth insight into genetic variation has emerged as a capacious challenge in the field of genomic research, owing to the presence of a large number of genetic variations in the genome of humans. Assessment of the variations in the genome could serve as a foundation stone to obtain better insight and understand the role of these variations in disease susceptibility, as well as their response to personalized treatment [1] . Additionally, the progressive development in the field of epigenetics and genomics has enabled the gathering of more information and paved the way for new avenues of research for assessing, understanding, and elucidating the mechanisms of genetic disorders and defects [2] .  \nIn general, a single nucleotide polymorphism (SNP) is an alteration of a single nucleotide, i.e., adenine (A)/cytosine (C)/guanine (G)/thymine (T) at the genetic (DNA) level. Recently, a type of SNP called non-synonymous SNP (nsSNP) has gained the interest of researchers as it could serve as a ","cbCainPT9dC1USXl","https://ap.wps.com/l/cbCainPT9dC1USXl","pdf",2483339,21,"English","# Abstract\n# Introduction","[{\"question\":\"What is the main goal of the in silico AKT1 study?\",\"answer\":\"To identify deleterious AKT1 missense SNPs and predict their effects on AKT1 protein structure and function using computational tools.\"},{\"question\":\"How many highly deleterious SNPs were identified, and what key examples were highlighted?\",\"answer\":\"Twelve highly deleterious SNPs were reported. Four—G157R, G159V, G336D, and H265Y—were predicted at highly conserved residues, and G157R was suggested to affect ligand binding.\"},{\"question\":\"What downstream applications does the study suggest?\",\"answer\":\"The results are described as useful for pharmacogenomics, molecular diagnosis of diseases, and developing inhibitors of the AKT1 oncogene.\"}]","Discovering Deleterious Single Nucleotide Polymorphisms of Human AKT1 Oncogene - An In Silico Study | PDF",1790222877,53]