Publication Date: 2023/12/08
Abstract: The EGR-1 gene encodes the EGR-1 protein in humans, featuring three zinc finger domains crucial for DNA binding and transcriptional regulation. While comprehensive investigations into the EGR-1 gene have occurred, a research gap persists in the systematic analysis of single nucleotide polymorphisms (SNPs) associated with this gene. This study aimed to fill this void by identifying and compiling a systematic collection of damaging non-synonymous SNPs (nsSNPs) within the EGR-1 gene, seeking a better understanding of mutational changes. From 2,712 SNPs in the dbSNP database, 455 non-synonymous missense substitutions were selected for analysis. These substitutions were then used to identify dominant variants, assess potential consequences, and conduct mutation analyses based on subPSEC scores. Gibbs free energy changes affected by dominant substitutions were examined, distinguishing between neutral and effect variants, and evaluated functional and phenotypic effects.Further analysis involved modeling substitutions to assess their structural impact on the EGR-1 protein, elucidating disturbances in interaction with closely related genes and pinpointing changes in binding affinity and hydrogen bonds. Our analysis identified five nsSNPs as the most hazardous substitutions, with rs201213506 (H334N) recognized as the most detrimental mutation in the DNA binding region of the EGR-1 gene. This investigation effectively revealed the significant impact of the H334N mutation on the gene's regulatory capabilities. Further exploration and understanding of these genetic variations could lead to the identification of innovative therapeutic markers for various inherited human diseases.
Keywords: Early growth response(EGR)-1 gene; nsSNP; Computational analysis; protein-protein interaction; Docking.
DOI: https://doi.org/10.5281/zenodo.10319617
PDF: https://ijirst.demo4.arinfotech.co/assets/upload/files/IJISRT23NOV2176.pdf
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