Almakhari, Maitha, Chen, Yan, Kong, Amanda Shen-Yee, Moradigaravand, Danesh, Lai, Kok-Song, Lim, Swee-Hua Erin, Loh, Jiun-Yan, and Maran, Sathiya (2024) In-silico identification of deleterious nonsynonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS. PLoS ONE, 19 (6). e0298092.

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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 non-synonymous 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.

Item ID:	83258
Item Type:	Article (Research - C1)
ISSN:	1932-6203
Copyright Information:	© 2024 Almakhari et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Date Deposited:	30 Jul 2024 00:37
FoR Codes:	31 BIOLOGICAL SCIENCES > 3102 Bioinformatics and computational biology > 310206 Sequence analysis @ 50% 31 BIOLOGICAL SCIENCES > 3101 Biochemistry and cell biology > 310199 Biochemistry and cell biology not elsewhere classified @ 50%
SEO Codes:	20 HEALTH > 2099 Other health > 209999 Other health not elsewhere classified @ 100%
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