The TRPV4 protein is a calcium channel that operates as a channel protein. Many types of cells and tissues include this channel, which transports positively charged calcium atoms (calcium ions) through cell membranes. vascular stiffness, persistent asthma, dermatological pathologies such as psoriasis and rosacea, neuromuscular illness, progressive peripheral neuropathy, and skeletal dysplasias have all been linked to dysfunctions in this protein. Changes in a single nucleotide (SNVs) in the coding region of the TRPV4 gene, which might impact the protein's function, are one of the possible reasons of these dysfunctions. The goal of this study is to look at the impact of 29 variants of uncertain significance (VUSs) found in the TRPV4 gene. To examine the impact of these alterations, 11 SNV in silico impact prediction methods were used. At least 10 of the 11 programmes employed categorised five of the 29 missense VUSs initially investigated as harmful (Ala245Thr, Ala377Val, Ile678Ser, Arg746Cys, and Glu797Gly) ( 80 percent ). Two of these SNVs (Ala377Val and Ile678Ser) are found in highly conserved TRPV4 gene areas. Although they are useful as preliminary prediction tools, this computational technique must be supplemented with additional research in order to draw conclusions regarding the influence of the SNVs under investigation.
Author (S) Details
Ligia Silva Pondé Serra
Programa de Graduação em Ciências Biológicas, Universidade Católica de Brasília, Brazil.
Juliane da Silva Ferreira
Programa de Graduação em Ciências Biológicas, Universidade Católica de Brasília, Brazil.
Kamila de Oliveira e Silva
Programa de Graduação em Ciências Biológicas, Universidade Católica de Brasília, Brazil.
Sérgio Amorim de Alencar
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília, Brazil.
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