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First Comprehensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene
Joint Authors
Merican, Amir Feisal
El-Harouni, Ashraf A.
Manwar Hussain, Muhammad Ramzan
Anwar, Yasir
al-Aama, Jumana Yousuf
Bundajji, Nabil S.
Ali Mohamoud, Hussein Sheikh
Asfour, Hani
Qasmi, Zaheer Ulhaq
Baig, Mukhtiar
Shaik, Noor Ahmad
Source
Computational and Mathematical Methods in Medicine
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-15, 15 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-03-04
Country of Publication
Egypt
No. of Pages
15
Main Subjects
Abstract EN
GalNAc-T1, a key candidate of GalNac-transferases genes family that is involved in mucin-type O-linked glycosylation pathway, is expressed in most biological tissues and cell types.
Despite the reported association of GalNAc-T1 gene mutations with human disease susceptibility, the comprehensive computational analysis of coding, noncoding and regulatory SNPs, and their functional impacts on protein level, still remains unknown.
Therefore, sequence- and structure-based computational tools were employed to screen the entire listed coding SNPs of GalNAc-T1 gene in order to identify and characterize them.
Our concordant in silico analysis by SIFT, PolyPhen-2, PANTHER-cSNP, and SNPeffect tools, identified the potential nsSNPs (S143P, G258V, and Y414D variants) from 18 nsSNPs of GalNAc-T1.
Additionally, 2 regulatory SNPs (rs72964406 and #x26; rs34304568) were also identified in GalNAc-T1 by using FastSNP tool.
Using multiple computational approaches, we have systematically classified the functional mutations in regulatory and coding regions that can modify expression and function of GalNAc-T1 enzyme.
These genetic variants can further assist in better understanding the wide range of disease susceptibility associated with the mucin-based cell signalling and pathogenic binding, and may help to develop novel therapeutic elements for associated diseases.
American Psychological Association (APA)
Ali Mohamoud, Hussein Sheikh& Manwar Hussain, Muhammad Ramzan& El-Harouni, Ashraf A.& Shaik, Noor Ahmad& Qasmi, Zaheer Ulhaq& Merican, Amir Feisal…[et al.]. 2014. First Comprehensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene. Computational and Mathematical Methods in Medicine،Vol. 2014, no. 2014, pp.1-15.
https://search.emarefa.net/detail/BIM-506790
Modern Language Association (MLA)
Ali Mohamoud, Hussein Sheikh…[et al.]. First Comprehensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene. Computational and Mathematical Methods in Medicine No. 2014 (2014), pp.1-15.
https://search.emarefa.net/detail/BIM-506790
American Medical Association (AMA)
Ali Mohamoud, Hussein Sheikh& Manwar Hussain, Muhammad Ramzan& El-Harouni, Ashraf A.& Shaik, Noor Ahmad& Qasmi, Zaheer Ulhaq& Merican, Amir Feisal…[et al.]. First Comprehensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene. Computational and Mathematical Methods in Medicine. 2014. Vol. 2014, no. 2014, pp.1-15.
https://search.emarefa.net/detail/BIM-506790
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-506790