Document Details
|
Document Type |
: |
Article In Journal |
|
Document Title |
: |
First Comprehensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene First Comprehensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene |
|
Document Language |
: |
English |
|
Abstract |
: |
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. |
|
ISSN |
: |
1748-670X |
|
Journal Name |
: |
COMPUTATIONAL AND MATHEMATICAL METHODS IN MEDICINE |
|
Volume |
: |
904052 |
|
Issue Number |
: |
1 |
|
Publishing Year |
: |
1435 AH
2014 AD |
|
Article Type |
: |
Article |
|
Added Date |
: |
Thursday, August 10, 2017 |
|
Researchers
| Hussein Mohamoud | Mohamoud, Hussein | Researcher | | |
| Muhammad Hussain | Hussain, Muhammad | Researcher | | |
| Ashraf El-Harouni | El-Harouni, Ashraf | Researcher | | |
| Noor Shaik | Shaik, Noor | Researcher | | |
| Zaheer Qasmi | Qasmi, Zaheer | Researcher | | |
| Amir Merican | Merican, Amir | Researcher | | |
| Mukhtiar Baig | Baig, Mukhtiar | Researcher | | |
| Yasir Anwar | Anwar, Yasir | Researcher | | |
| Hani Asfour | Asfour, Hani | Researcher | | |
| Nabeel Bondagji | Bondagji, Nabeel | Researcher | | |
| Jumana Al-Aama | Al-Aama, Jumana | Researcher | | |
|
Back To Researches Page
|