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Dataset Information

In silico screening of non-synonymous SNPs in human TUFT1 gene.


ABSTRACT:

Background

Tuftelin 1 (TUFT1) gene is important in the development and mineralization of dental enamel. The study aimed to identify potential functionally deleterious non-synonymous SNPs (nsSNPs) in the TUFT1 gene by using different in silico tools. The deleterious missense SNPs were identified from SIFT, PolyPhen-2, PROVEAN, SNPs & GO, PANTHER, and SNAP2. The stabilization, conservation, and three-dimensional modeling of mutant proteins were analyzed by I-Mutant 3.0, Consurf, and Project HOPE, respectively. The protein-protein interaction using STRING, GeneMANIA for gene-gene interaction, and DynaMut for evaluating the impact of the mutation on protein stability, conformation, and flexibility.

Results

Eight deleterious nsSNPs (E242A, R303W, K182N, K123N, R117W, H289Q, R203W

SUBMITTER: Ajith A 

PROVIDER: S-EPMC10558407 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature