In-silico analysis of deleterious non-synonymous SNPs in the human AVPR1a gene linked to autism
Jibon, Md Delowar Kobir, Islam, Md Asadul, Hosen, Md Eram, Faruqe, Md Omar, Zaman, Rashed, Acharjee, Uzzal Kumar, Sikdar, Biswanath, Tiruneh, Yewulsew Kebede, Khalekuzzaman, Md, Jawi, Motasim, and Zaki, Magdi E.A. (2025) In-silico analysis of deleterious non-synonymous SNPs in the human AVPR1a gene linked to autism. BMC Genomics, 26 (1). 492.
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Abstract
Single nucleotide polymorphisms are the most prevalent type of DNA variation occurring at a single nucleotide within the genomic sequence. The AVPR1a gene exhibits genetic polymorphism and is linked to neurological and developmental problems, including autism spectrum disorder. Due to the difficulties of studying all non-synonymous single nucleotide polymorphisms (nsSNPs) of the AVPR1a gene in the general population, our goal is to use a computational approach to identify the most detrimental nsSNPs of the AVPR1a gene. We employed several bioinformatics tools, such as SNPnexus, PROVEAN, PANTHER, PhD-SNP, SNP & GO, and I-Mutant2.0, to detect the 23 most detrimental mutants (R85H, D202N, E54G, H92P, D148Y, C203G, V297M, D148V, S182N, Q108L, R149C, G212V, M145T, G212S, Y140S, F207V, Q108H, W219G, R284W, L93F, P156R, F136C, P107L). Later, we used other bioinformatics tools to perform domain and conservation analysis. We analyzed the consequences of high‑risk nsSNPs on active sites, post-translational modification (PTM) sites, and their functional effects on protein stability. 3D modeling, structure validation, protein-ligand binding affinity prediction, and Protein-protein docking were conducted to verify the presence of five significant substitutions (R284W, Y140S, P107L, R149C, and F207V) and explore the modifications induced due to these mutants. These non-synonymous single nucleotide polymorphisms can potentially be the focus of future investigations into various illnesses caused by AVPR1a malfunction. Employing in-silico methodologies to evaluate AVPR1a gene variants will facilitate the coordination of extensive investigations and the formulation of specific therapeutic approaches for diseases associated with these variations.
| Item ID: | 87709 |
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| Item Type: | Article (Research - C1) |
| ISSN: | 1471-2164 |
| Keywords: | Autism, AVPR1a, Docking, In-silico, Missense SNPs, Mutation, NsSNP, Polymorphism |
| Copyright Information: | © The Author(s) 2025, corrected publication 2025. This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/. |
| Date Deposited: | 28 Jan 2026 05:46 |
| FoR Codes: | 32 BIOMEDICAL AND CLINICAL SCIENCES > 3209 Neurosciences > 320905 Neurology and neuromuscular diseases @ 30% 32 BIOMEDICAL AND CLINICAL SCIENCES > 3205 Medical biochemistry and metabolomics > 320505 Medical biochemistry - nucleic acids @ 30% 31 BIOLOGICAL SCIENCES > 3105 Genetics > 310509 Genomics @ 40% |
| SEO Codes: | 20 HEALTH > 2001 Clinical health > 200101 Diagnosis of human diseases and conditions @ 100% |
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