In-silico identification of deleterious nonsynonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS

Maitha Almakhari, Yan Chen, Amanda Shen Yee Kong, Danesh Moradigaravand, Kok Song Lai, Swee Hua Erin Lim, Jiun Yan Loh*, Sathiya Maran*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

The TBX1 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 nonsynonymous single nucleotide polymorphisms (nsSNPs) within the TBX1 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>A), rs780800634(G>A), rs1936727304(T>C), rs1223320618(G>A), rs1248532217(T>C), rs1294927055 (C>T), rs1331240435 (A>G, rs1601289406 (A>C), rs1936726164 (G>A), and rs911796187(G>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 TBX1 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 affected by 22q11.2DS.

Original languageEnglish (US)
Article numbere0298092
JournalPloS one
Volume19
Issue number6 June
DOIs
StatePublished - Jun 2024

ASJC Scopus subject areas

  • General

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