{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:20:08Z","timestamp":1747196408446,"version":"3.40.5"},"reference-count":51,"publisher":"Public Library of Science (PLoS)","issue":"6","license":[{"start":{"date-parts":[[2024,6,21]],"date-time":"2024-06-21T00:00:00Z","timestamp":1718928000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>The <jats:italic>TBX1<\/jats:italic> gene plays a critical role in the development of 22q11.2 deletion syndrome (22q11.2DS), a complex genetic disorder associated with various phenotypic manifestations. In this study, we performed in-silico analysis to identify potentially deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) within the <jats:italic>TBX1<\/jats:italic> gene and evaluate their functional and structural impact on 22q11.2DS. A comprehensive analysis pipeline involving multiple computational tools was employed to predict the pathogenicity of nsSNPs. This study assessed protein stability and explored potential alterations in protein-protein interactions. The results revealed the rs751339103(C&gt;A), rs780800634(G&gt;A), rs1936727304(T&gt;C), rs1223320618(G&gt;A), rs1248532217(T&gt;C), rs1294927055 (C&gt;T), rs1331240435 (A&gt;G, rs1601289406 (A&gt;C), rs1936726164 (G&gt;A), and rs911796187(G&gt;A) with a high-risk potential for affecting protein function and stability. These nsSNPs were further analyzed for their impact on post-translational modifications and structural characteristics, indicating their potential disruption of molecular pathways associated with <jats:italic>TBX1<\/jats:italic> and its interacting partners. These findings provide a foundation for further experimental studies and elucidation of potential therapeutic targets and personalized treatment approaches for individuals <jats:italic>affected<\/jats:italic> by 22q11.2DS.<\/jats:p>","DOI":"10.1371\/journal.pone.0298092","type":"journal-article","created":{"date-parts":[[2024,6,21]],"date-time":"2024-06-21T17:31:16Z","timestamp":1718991076000},"page":"e0298092","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":0,"title":["In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS"],"prefix":"10.1371","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0044-6024","authenticated-orcid":true,"given":"Maitha","family":"Almakhari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda Shen-Yee","family":"Kong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danesh","family":"Moradigaravand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kok-Song","family":"Lai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swee-Hua Erin","family":"Lim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2857-9184","authenticated-orcid":true,"given":"Jiun-Yan","family":"Loh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sathiya","family":"Maran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2024,6,21]]},"reference":[{"key":"pone.0298092.ref001","doi-asserted-by":"crossref","first-page":"1168","DOI":"10.3390\/children9081168","article-title":"Deletion Syndrome 22q11.2: A Systematic Review.","volume":"9","author":"J. 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