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Prediction of functionally significant single nucleotide polymorphisms in PTEN tumor suppressor gene: An in silico approach

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dc.contributor.authorKhan, IMRAN
dc.contributor.authorAnsari, Irfan A.
dc.contributor.authorSingh, Pratichi
dc.contributor.authorDass, Febin Prabhu J.
dc.contributor.institutionauthorKHAN, IMRAN
dc.date.accessioned2021-04-10T20:59:10Z
dc.date.available2021-04-10T20:59:10Z
dc.date.issued2017-09-01T00:00:00Z
dc.description.abstractThe phosphatase and tensin homolog (PTEN) gene plays a crucial role in signal transduction by negatively regulating the PI3K signaling pathway. It is the most frequent mutated gene in many human-related cancers. Considering its critical role, a functional analysis of missense mutations of PTEN gene was undertaken in this study. Thirty five nonsynonymous single nucleotide polymorphisms (nsSNPs) within the coding region of the PTEN gene were selected for our in silico investigation, and five nsSNPs (G129E, C124R, D252G, H61D, and R130G) were found to be deleterious based on combinatorial predictions of different computational tools. Moreover, molecular dynamics (MD) simulation was performed to investigate the conformational variation between native and all the five mutant PTEN proteins having predicted deleterious nsSNPs. The results of MD simulation of all mutant models illustrated variation in structural attributes such as root-mean-square deviation, root-mean-square fluctuation, radius of gyration, and total energy; which depicts the structural stability of PTEN protein. Furthermore, mutant PTEN protein structures also showed a significant variation in the solvent accessible surface area and hydrogen bond frequencies from the native PTEN structure. In conclusion, results of this study have established the deleterious effect of the all the five predicted nsSNPs on the PTEN protein structure. Thus, results of the current study can pave a new platform to sort out nsSNPs that can be undertaken for the confirmation of their phenotype and their correlation with diseased status in case of control studies. (C) 2016 International Union of Biochemistry and Molecular Biology, Inc.
dc.identifier.citationKhan I., Ansari I. A. , Singh P., Dass F. P. J. , -Prediction of functionally significant single nucleotide polymorphisms in PTEN tumor suppressor gene: An in silico approach-, BIOTECHNOLOGY AND APPLIED BIOCHEMISTRY, cilt.64, sa.5, ss.657-666, 2017
dc.identifier.doi10.1002/bab.1483
dc.identifier.scopus85027985061
dc.identifier.urihttp://hdl.handle.net/20.500.12645/28724
dc.identifier.wosWOS:000423086600006
dc.titlePrediction of functionally significant single nucleotide polymorphisms in PTEN tumor suppressor gene: An in silico approach
dc.typeArticle
dspace.entity.typePublication
local.avesis.id8820e911-71ed-4945-adda-773852e9c984
local.publication.goal03 - Sağlık ve Kaliteli Yaşam
local.publication.isinternational1
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relation.isAuthorOfPublication.latestForDiscovery096be806-cf26-4766-b5b4-26f30c593af2
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relation.isGoalOfPublication.latestForDiscovery9c198c48-b603-4e2f-8366-04edcfc1224c
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