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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
First comprehensive in silico analysis of the functional and structural consequences of SNPs in human GalNAc-T1 gene
Computational and Mathematical Methods in Medicine, Volume 2014, Article 904052, Year 2014
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Description
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. © 2014 Hussein Sheikh Ali Mohamoud et al.
Authors & Co-Authors
Ali Mohamoud, Hussein Sheikh
United Kingdom, London
St George’s, University of London
Saudi Arabia, Jeddah
King Abdulaziz University
Manwar Hussain, Muhammad Ramzan
Saudi Arabia, Jeddah
King Abdulaziz University
El-Harouni, A. A.
Saudi Arabia, Jeddah
King Abdulaziz University
Shaik, Noor Ahmad
Saudi Arabia, Jeddah
King Abdulaziz University
Ul‑Haq, Zaheer
Pakistan, Karachi
University of Karachi
Merican, Amir Feisal
Malaysia, Kuala Lumpur
Institute of Biological Sciences
Baig, Mukhtiar
Saudi Arabia, Rabigh
Faculty of Medicine in Rabigh
Anwar, Yasir
Saudi Arabia, Jeddah
King Abdulaziz University
Asfour, Hani Zakaria
Saudi Arabia, Jeddah
King Abdulaziz University
Bondagji, Nabeel
Saudi Arabia, Jeddah
King Abdulaziz University
Al-Aama, Jumana Yousuf
Saudi Arabia, Jeddah
King Abdulaziz University
Statistics
Citations: 27
Authors: 11
Affiliations: 5
Identifiers
Doi:
10.1155/2014/904052
ISSN:
1748670X
e-ISSN:
17486718
Research Areas
Genetics And Genomics