Publication:
Identification and characterization of functional single nucleotide polymorphisms (SNPs) in Axin 1 gene: a molecular dynamics approach

dc.contributor.authorKhan, IMRAN
dc.contributor.authorAnsari, Irfan A.
dc.contributor.authorSingh, Pratichi
dc.contributor.authorDass, J. Febin Prabhu
dc.contributor.authorKhan, Fahad
dc.contributor.institutionauthorKHAN, IMRAN
dc.date.accessioned2021-04-10T20:59:07Z
dc.date.available2021-04-10T20:59:07Z
dc.date.issued2018-06-01T00:00:00Z
dc.description.abstractWnt signaling pathway has been reported to play crucial role in intestinal crypt formation and deregulation of this pathway is responsible for colorectal cancer initiation and progression. Axin 1, a scaffold protein, play pivotal role in the regulation of Wnt/beta-catenin signaling pathway and has been found to be mutated in several cancers; primarily in colon cancer. Considering its crucial role, a structural and functional analysis of missense mutations in Axin 1 gene was performed in this study. Initially, one hundred non-synonymous single nucleotide polymorphisms in the coding regions of Axin 1 gene were selected for in silico analysis. Six variants (G820S, G856S, E830K, L811V, L847V, and R767C) were predicted to be deleterious by combinatorial prediction. Further investigation of structural attributes confirmed two highly deleterious single nucleotide polymorphisms (G820S and G856S). Molecular dynamics simulation demonstrated variation in different structural attributes between native and two highly deleterious Axin 1 mutant models. Finally, docking analysis showed variation in binding affinity of mutant Axin 1 proteins with two destruction complex members, GSK3 beta and adenomatous polyposis. The results collectively showed the deleterious effect of the above predicted single nucleotide polymorphisms on the Axin 1 protein structure and could prove to be an adjunct in the disease genotype-phenotype correlation studies.
dc.identifier.citationKhan I., Ansari I. A. , Singh P., Dass J. F. P. , Khan F., -Identification and characterization of functional single nucleotide polymorphisms (SNPs) in Axin 1 gene: a molecular dynamics approach-, CELL BIOCHEMISTRY AND BIOPHYSICS, cilt.76, ss.173-185, 2018
dc.identifier.doi10.1007/s12013-017-0818-1
dc.identifier.scopus85026760570
dc.identifier.urihttp://hdl.handle.net/20.500.12645/28721
dc.identifier.wosWOS:000430662600015
dc.titleIdentification and characterization of functional single nucleotide polymorphisms (SNPs) in Axin 1 gene: a molecular dynamics approach
dc.typeArticle
dspace.entity.typePublication
local.avesis.id280a5e9a-bf0a-44be-b9f2-003c51fb6ead
local.publication.goal03 - Sağlık ve Kaliteli Yaşam
local.publication.isinternational1
relation.isAuthorOfPublication096be806-cf26-4766-b5b4-26f30c593af2
relation.isAuthorOfPublication.latestForDiscovery096be806-cf26-4766-b5b4-26f30c593af2
relation.isGoalOfPublication9c198c48-b603-4e2f-8366-04edcfc1224c
relation.isGoalOfPublication.latestForDiscovery9c198c48-b603-4e2f-8366-04edcfc1224c
Files
Collections