Objetivou-se avaliar as possíveis alterações morfofuncionais e de estabilidade proteica decorrentes das dos aminoácidos Tirosina por uma Histidina na posição 269, bem como, correlacionar com a função fisiológica da proteína sua provável ligação osteoporose humana. Por meio análise in silico base nas informações disponíveis nos bancos dados NCBI dbSNP (mudança posição) UNIPROT (sequência proteín...

AIMS Next-generation sequencing has opened the possibility of large-scale sequence-based disease association studies. A major challenge in interpreting whole-exome data is predicting which of the discovered variants are deleterious or neutral. To address this question in silico, we have developed a score called Combined Annotation scoRing toOL (CAROL), which combines information from 2 bioinfor...

There are more than 500 amino acid substitutions in each human genome, and bioinformatics tools irreplaceably contribute to determination of their functional effects. We have developed feature-based algorithm for the detection of mutations outside conserved functional domains (CFDs) and compared its classification efficacy with the most commonly used phylogeny-based tools, PolyPhen-2 and SIFT. ...

introduction: several lines of evidence suggest that the factor xiii (fxiii) 100 g/t polymorphism may influence susceptibility to deep venous thromboembolism (dvt). to explore this hypothesis, we investigated whether this polymorphism is associated with the predisposition to dvt. we also predict the possible impact of residue substitution at codons 34 (val34leu) in a subunits of the fxiii coagu...

Recently, Shi et al. reported several novel dominantly inherited mutations in the ZNF644 gene, which they proposed as being the underlying cause of high myopia in both unrelated Chinese families and sporadic patients. It is, however, normally good scientific practice to carry out a multispecies, multiple sequence alignment (MSA) and/or a more advanced algorithm prediction tool, such as PolyPhen...

abstract           introduction: genetic variations in the gene encoding endothelial nitric oxide synthase (enos) enzyme affect the susceptibility to cardiovascular disease. identification of the way these changes affect enos structure and function in laboratory conditions is difficult and time-consuming. thus, it seems essential to perform bioinformatics studies prior to laboratory studies to ...

Recently, a contagious lung disease named coronavirus 2019 (COVID-19) caused by severe acute respiratory syndrome 2 (SARS-CoV-2), rapidly spread worldwide and has many serious consequences for human health. Human genetic polymorphisms may contribute to the variation of incidence, mortality as well severity COVID-19. To date, this factor in Vietnamese population remains unknown. A cellular prote...

Carrier of tyrosinemia type I was diagnosed by sequencing FAH (fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13, respectively, in the parents. The experimental program PolyPhen, SIFT, and MT predicts former missense point mutation as "benign" that creates a potential...

Aim: This study aimed to investigate the effect of non-synonymous SNPs (nsSNPs) Glucagon-like peptide-1 Receptor (GLP-1R) gene in protein function and structure using different computational software. Introduction: The GLP1R provides necessary instruction for synthesis insulin hormones which is needed glucose catabolism. Polymorphisms this are associated with diabetes. an important drug target ...