{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T19:17:23Z","timestamp":1769455043928,"version":"3.49.0"},"reference-count":48,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Computational and Mathematical Methods in Medicine"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p><jats:italic>GalNAc-T1<\/jats:italic>, a key candidate of GalNac-transferases genes family that is involved in mucin-type<jats:italic>O<\/jats:italic>-linked glycosylation pathway, is expressed in most biological tissues and cell types. Despite the reported association of<jats:italic>GalNAc-T1<\/jats:italic>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<jats:italic>GalNAc-T1<\/jats:italic>gene in order to identify and characterize them. Our concordant<jats:italic>in silico<\/jats:italic>analysis by SIFT, PolyPhen-2, PANTHER-cSNP, and SNPeffect tools, identified the potential nsSNPs (S143P, G258V, and Y414D variants) from 18 nsSNPs of<jats:italic>GalNAc-T1<\/jats:italic>. Additionally, 2 regulatory SNPs (rs72964406 and #x26; rs34304568) were also identified in<jats:italic>GalNAc-T1<\/jats:italic>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<jats:italic>GalNAc-T1<\/jats:italic>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.<\/jats:p>","DOI":"10.1155\/2014\/904052","type":"journal-article","created":{"date-parts":[[2014,3,4]],"date-time":"2014-03-04T21:10:29Z","timestamp":1393967429000},"page":"1-15","source":"Crossref","is-referenced-by-count":15,"title":["First Comprehensive<i>In Silico<\/i>Analysis of the Functional and Structural Consequences of SNPs in Human<i>GalNAc-T1<\/i>Gene"],"prefix":"10.1155","volume":"2014","author":[{"given":"Hussein Sheikh","family":"Ali Mohamoud","sequence":"first","affiliation":[{"name":"Human Genetics Research Centre, Division of Biomedical Sciences (BMS), Saint George\u2019s University of London (SGUL), London, UK"},{"name":"Princess Al-Jawhara Al-Ibrahim Center of Excellence in Research of Hereditary Disorders, King 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