{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:43:51Z","timestamp":1787028231446,"version":"build-2736575974"},"reference-count":71,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T00:00:00Z","timestamp":1657584000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Institutional fund projects","award":["IFPDP--9-22"],"award-info":[{"award-number":["IFPDP--9-22"]}]},{"name":"Ministry of Education and King Abdulaziz University","award":["IFPDP--9-22"],"award-info":[{"award-number":["IFPDP--9-22"]}]},{"name":"INTI International University","award":["IFPDP--9-22"],"award-info":[{"award-number":["IFPDP--9-22"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Polycystic ovary syndrome (PCOS) is a reproductive disorder with multiple etiologies, mainly characterized by the excess production of androgens. It is equally contributed to by genes and environment. The CYP11A1 gene is imperative for steroidogenesis, so any dysregulation or mutation in this gene can lead to PCOS pathogenesis. Therefore, nucleotide diversity in this gene can be helpful in spotting the likelihood of developing PCOS. The present study was initiated to investigate the effect of single nucleotide polymorphisms in human CYP11A1 gene on different attributes of encoded mutated proteins, i.e., sub-cellular localization, ontology, half-life, isoelectric point, instability index, aliphatic index, extinction coefficient, 3-D and 2-D structures, and transmembrane topology. For this purpose, initially coding sequence (CDS) and single nucleotide polymorphisms (SNPs) were retrieved for the desired gene from Ensembl followed by translation of CDS using EXPASY tool. The protein sequence obtained was subjected to different tools including CELLO2GO, ProtParam, PHYRE2, I-Mutant, SIFT, and PolyPhen. It was found that out of seventy-eight SNPs analyzed in this project, seventeen mutations, i.e., rs750026801 in exon 1, rs776056840, rs779154292 and rs1217014229 in exon 2, rs549043326 in exon 3, rs755186597 in exon 4, rs1224774813, rs757299093 and rs1555425667 in exon 5, rs1454328072 in exon 7, rs762412759 and rs755975808 in exon 8, and rs754610565, rs779413653, rs765916701, rs1368450780, and rs747901197 in exon 9 considerably altered the structure, sub-cellular localization, and physicochemical characteristics of mutated proteins. Among the fifty-nine missense SNPs documented in present study, fifty-five and fifty-three were found to be deleterious according to SIFT and PolyPhen tools, respectively. Forty-nine missense mutations were analyzed to have a decreasing effect on the stability of mutant proteins. Hence, these genetic variants can serve as potential biomarkers in human females for determining the probability of being predisposed to PCOS.<\/jats:p>","DOI":"10.3390\/genes13071231","type":"journal-article","created":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T03:50:36Z","timestamp":1657597836000},"page":"1231","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["In-Silico Investigation of Effects of Single-Nucleotide Polymorphisms in PCOS-Associated CYP11A1 Gene on Mutated Proteins"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8149-6279","authenticated-orcid":false,"given":"Fatima","family":"Muccee","sequence":"first","affiliation":[{"name":"School of Biochemistry and Biotechnology, University of Punjab, Lahore 52254, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osama","family":"Bijou","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecology Department, Faculty of Medicine (FM), King Abdulaziz University, Jeddah 21589, Saudi Arabia"},{"name":"King Fahd Medical Research Center, King Abdulaziz University, Jeddah 21589, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7512-8787","authenticated-orcid":false,"given":"Steve","family":"Harakeh","sequence":"additional","affiliation":[{"name":"King Fahd Medical Research Center, King Abdulaziz University, Jeddah 21589, Saudi Arabia"},{"name":"Yousef Abdul Latif Jameel Scientific Chair of Prophetic Medicine Application, Faculty of Medicine (FM), King Abdulaziz University, Jeddah 21589, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabi\u2019atul","family":"Adawiyah","sequence":"additional","affiliation":[{"name":"Faculty of Health and Life Sciences, INTI International University, Nilai 71800, Negeri Sembilan, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1553-1213","authenticated-orcid":false,"given":"R. Z.","family":"Sayyed","sequence":"additional","affiliation":[{"name":"Department of Microbiology, P.S.G.V.P. Mandal\u2019s S I Patil Arts, G B Patel Science and S.T.K.V.S. Sangh Commerce College, Shahada 425409, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4883-5977","authenticated-orcid":false,"given":"Leila","family":"Haghshenas","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Postdoc Association Member of Harvard Medical School, Boston, MA 02138, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3261-8860","authenticated-orcid":false,"given":"Dikhnah","family":"Alshehri","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Science, Tabuk University, Tabuk 71491, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8718-3078","authenticated-orcid":false,"given":"Mohammad Javed","family":"Ansari","sequence":"additional","affiliation":[{"name":"Department of Botany, Hindu College Moradabad, Mahatma Jyotiba Phule Rohilkhand University, Bareilly 244001, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shakira","family":"Ghazanfar","sequence":"additional","affiliation":[{"name":"National Institute for Genomics Advanced Biotechnology (NIGAB), National Agricultural Research Centre (NARC), Islamabad 45500, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"100085","DOI":"10.1016\/j.endmts.2021.100085","article-title":"A review: Brief insight into Polycystic Ovarian syndrome","volume":"3","author":"Bulsara","year":"2021","journal-title":"Endocr. 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