PREDICTION BY IN SILICO ANALYSIS OF THE OUTCOME OF MISSENSE MUTATION IN THE HUMAN IGF2 GENE

• DOI: 10.22533/at.ed.813322308028

• Palavras-chave: genetic polymorphism,IGF2, Variants, Bioinformatics, Missense.

• Keywords: genetic polymorphism,IGF2, Variants, Bioinformatics, Missense.

• Abstract:

  Gestational hypertensive syndromes(SHG),Gestational hypertension (HG) and chronic arterial hypertension (CAH) are among the major causes of maternal and fetal death and may be related to the polymorphism of the human IGF2 gene.Method: On the platformensemble, OtranscribedIGF2-205was identified in UNIPROT by the codeP01344.Of the 150 missense variants deposited in the databank, 11 were selected for in silico analysis, using theSIFT algorithms, Polyphen2 andMetaLR.Results:Youalgorithmsused to predict the effects of missense variants on the proteins encoded by the IGF2 gene in humans, showed agreement in the prediction of molecular consequences, and can be considered reliable tools for the characterization of new mutations foundin thisgene.The protein encoded by the IGF2 gene has an evolutionarily conserved sequence, suggesting that the gene is sensitive to mutations and, therefore, the identified site is probably related to the etiology of the disease.s pathologies.Conclusion:Based on these results, we can conclude that the morphofunctional alterations of proteins resulting from mutations in the IGF2 gene may be associated with harmful processes and changes in the structural stability of the protein, hindering its action in the physiological process. Understanding these alterations can help in the search for genetic markers, contributing to clarifying the prognosis, diagnosis, prevention and treatment of human diseases related to gestational hypertensive syndromes, gestational hypertension, chronic arterial hypertension, among others.