1- Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran
2- Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran; Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran; Ischemic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Iran ,oladnabidozin@yahoo.com
2- Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran; Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran; Ischemic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Iran ,
Abstract: (32 Views)
Background: Glucose-6-phosphate dehydrogenase deficiency, an enzyme disorder, can lead to red blood cell dysfunction and affect millions of individuals worldwide. In this study, we aimed to investigate the mutated variants of the G6PD gene at the global and national scales, with a focus on the Iranian population.
Methods: Bioinformatic tools, such as SIFT, PolyPhen-2, PANTHER, FATHMM, I-Mutant, and MUpro, were used to predict the effects of gene variants on the structure, function, and stability of G6PD protein. Also, STRING was utilized to assess protein-protein interactions, Consurf for conservation analysis, I-Tasser and PSIPRED for the analysis of secondary and tertiary structures, and finally, ProtScale for Hydrophobicity analysis.
Results: A total of 215 missense variants were obtained from HGMD. According to bioinformatic analyses, 69 variants were predicted to be pathogenic. Additionally, three G6PD variants were found to be prevalent in the Iranian population.
Conclusion: This study identified 69 missense variants with a possible pathogenic effect on G6PD protein. Moreover, three prevalent variants in the Iranian population were identified as Mediterranean, Chatham, and Cosenza. These findings offer valuable supportive information on the molecular basis of G6PD deficiency, needing further experimental studies to validate if these pathogenic variants have particular clinical relevance.
Methods: Bioinformatic tools, such as SIFT, PolyPhen-2, PANTHER, FATHMM, I-Mutant, and MUpro, were used to predict the effects of gene variants on the structure, function, and stability of G6PD protein. Also, STRING was utilized to assess protein-protein interactions, Consurf for conservation analysis, I-Tasser and PSIPRED for the analysis of secondary and tertiary structures, and finally, ProtScale for Hydrophobicity analysis.
Results: A total of 215 missense variants were obtained from HGMD. According to bioinformatic analyses, 69 variants were predicted to be pathogenic. Additionally, three G6PD variants were found to be prevalent in the Iranian population.
Conclusion: This study identified 69 missense variants with a possible pathogenic effect on G6PD protein. Moreover, three prevalent variants in the Iranian population were identified as Mediterranean, Chatham, and Cosenza. These findings offer valuable supportive information on the molecular basis of G6PD deficiency, needing further experimental studies to validate if these pathogenic variants have particular clinical relevance.
Keywords: G6PD Deficiency (Glucosephosphate Dehydrogenase Deficiency), Mutation, Missense, In silico analysis, Pathogenic variants, Iranian population
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