Evaluation of missense SNVs within human APOE (Apolipoprotein E) gene via bioinformatics tools

Authors : Ömer Faruk KARASAKAL, Ebru ÖZKAN OKTAY, Tuğba KAMAN

Pages : 489-500

Doi:10.25092/baunfbed.1197932

View : 20 | Download : 24

Publication Date : 2023-07-07

Article Type : Research Paper

Abstract :Apolipoprotein E insert ignore into journalissuearticles values(APOE); is one of the main proteins responsible for cholesterol transport. It has three major isoforms, APOE2, APOE3, and APOE4. The purpose of this study is to investigate the possible effects of single nucleotide variations insert ignore into journalissuearticles values(SNVs); in the APOE gene, which cause amino acid substitution, on the function, structure and stabilization of the APOE protein using bioinformatics/s tools. SNVs and protein sequence information were obtained from NCBI and UniProt databases. Bioinformatical analysis was performed using a series of tools such as SIFT, PolyPhen-2, SNPs&GO, Mutation Assessor, PROVEAN, SNAP2, I-Mutant-3, MUPro, and Project HOPE. As a result, 321 missense SNVs were analyzed and rs7412 insert ignore into journalissuearticles values(R176C);, rs769455 insert ignore into journalissuearticles values(R163C);, rs11542029 insert ignore into journalissuearticles values(R50C);, rs121918393 insert ignore into journalissuearticles values(R154S);, rs121918394 insert ignore into journalissuearticles values(K164Q);, rs200703101 insert ignore into journalissuearticles values(R154P);, rs387906567 insert ignore into journalissuearticles values(R160C);, rs11542040 insert ignore into journalissuearticles values(P102T);, rs11542041 insert ignore into journalissuearticles values(R132S); and rs41382345 insert ignore into journalissuearticles values(E139V); were predicted to be deleterious/disease related after functional analysis and pathological effect analysis via all of the bioinformatics/s tools. According to the protein stabilization results, it was determined that all SNVs decreased protein stabilization with the MUPro software tool, and two SNVs insert ignore into journalissuearticles values(rs121918394, rs41382345); increased protein stabilization with the I-Mutant-3 software tool. The models of protein and amino acid properties were obtained via Project HOPE for all high-risk SNVs. We hope our analysis will be valuable for further proteomic, genomic, and clinical research.
Keywords : Apolipoprotein E APOE, kolesterol, in silico, tek nükleotid varyantı SNV,