Comput Math Methods Med - First comprehensive in silico analysis of the functional and structural consequences of SNPs in human GalNAc-T1 gene.

Tópicos

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Resumo

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.

Resumo Limpo

galnact key candid galnactransferas gene famili involv mucintyp olink glycosyl pathway express biolog tissu cell type despit report associ galnact gene mutat human diseas suscept comprehens comput analysi code noncod regulatori snps function impact protein level still remain unknown therefor sequenc structurebas comput tool employ screen entir list code snps galnact gene order identifi character concord silico analysi sift polyphen panthercsnp snpeffect tool identifi potenti nssnps sp gv yd variant nssnps galnact addit regulatori snps rs x rs also identifi galnact use fastsnp tool use multipl comput approach systemat classifi function mutat regulatori code region can modifi express function galnact enzym genet variant can assist better understand wide rang diseas suscept associ mucinbas cell signal pathogen bind may help develop novel therapeut element associ diseas

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