In Silico Prediction of the Effects of Nonsynonymous Single Nucleotide Polymorphisms in the Human Catechol-O-Methyltransferase (COMT) Gene

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dc.authoridYILMAZ, AKIN / 0000-0002-4368-0777
dc.authorwosidYILMAZ, AKIN / G-1451-2011
dc.contributor.authorYılmaz, Akın
dc.contributor.authorÇetin, İhsan
dc.date.accessioned2021-11-01T15:03:01Z
dc.date.available2021-11-01T15:03:01Z
dc.date.issued2020
dc.department[Belirlenecek]
dc.description.abstractCatechol-O-methyltransferase (COMT) enzyme performs transfer of methyl group to endogenous and exogenous catechol substrates. The COMT enzyme draws interest because of its association with psychiatric, neurological and cardiovascular diseases, and several cancers. Moreover, many prescribed drugs, supplements, and their metabolites are used as substrates of COMT enzyme. The human COMT gene has 226 nonsynonymous single nucleotide polymorphisms (nsSNPs) according to public databases. Uncovering of the molecular impacts of nsSNPs on COMT enzyme function and structure may provide standpoint on how COMT nsSNPs affect enzyme activity and contribute to disease development. Therefore, we aimed in this study to predict possible structural and functional damaging effects of all knowns nsSNPs in COMT gene by applying various bioinformatics tools. Two hundred and twenty-six nsSNPs were obtained from Ensembl, HGMD, ClinVar, and dbSNP databases. Twenty-eight nsSNPs were found to be high-risk changes for protein structure. Some of them were detected in extremely conserved sequences have functional and structural properties. Besides, high-risk nsSNPs were also uncovered to change properties of native COMT protein. Our findings demonstrated the significance of COMT high-risk nsSNPs on protein structure and function. We expect that our results will be helpful in future studies concerning experimental evaluation of the COMT gene polymorphisms and/or the association between COMT polymorphisms and disease development.
dc.identifier.doi10.1007/s12013-020-00905-6
dc.identifier.endpage239en_US
dc.identifier.issn1085-9195
dc.identifier.issn1559-0283
dc.identifier.issue2en_US
dc.identifier.pmid32236879
dc.identifier.scopus2-s2.0-85083277884
dc.identifier.scopusqualityQ2
dc.identifier.startpage227en_US
dc.identifier.urihttps://doi.org/10.1007/s12013-020-00905-6
dc.identifier.urihttps://hdl.handle.net/11491/6925
dc.identifier.volume78en_US
dc.identifier.wosWOS:000522707100001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorÇetin, İhsan
dc.language.isoen
dc.publisherHumana Press Inc
dc.relation.ispartofCell Biochemistry And Biophysics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectBioinformaticsen_US
dc.subjectCOMT geneen_US
dc.subjectNonsynonymous polymorphismen_US
dc.subjectnsSNPen_US
dc.titleIn Silico Prediction of the Effects of Nonsynonymous Single Nucleotide Polymorphisms in the Human Catechol-O-Methyltransferase (COMT) Gene
dc.typeArticle

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