Bioinformatics Analyses of Single Nucleotide Polymorphism Rs2293024 in Tdgf1 Growth Factor Gene in Congenital Heart Disease

Background and aim: congenital heart disease (chd) is the most common birth defect and is the most prevalent non-infectious cause of infant death. there are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart. congenital heart defects can be attributed to a variety of large chromosomal structures or single gene mutations that cause monogenic syndromes. the target gene in this study is tdgf1. it encodes an epidermal growth factor-dependent protein that encodes the cripto, frl-1, and cryptic domain. the encoded protein is an extracellular and membrane signaling protein and plays an important role in fetal and tumor growth. mutations in this gene are associated with brain defects. tdgf1 growth factor is located in 3p21.31. this gene has 7 exons and 2 isoforms. alternative splicing proses results in multiple transcript variants. 2696 snps are reported for tdgf1 gene until now. rs2293024 of the tdgf1 gene is located in coding region and is a missense mutation (g>a,c). in this study, we analyzed pathogenicity effects of this snp in tdgf1 gene.methods: in this study, we analyzed pathogenicity effects of this snp in tdgf1 gene by sift (is a server that predicts the replacement of the amino acids that affects on protein function) polyphen2 (is a tool for annotating coding non-synonymous snps), i-mutant2.0 (is a tool for prediction of protein stability changes upon single point mutation) and mupro (is a tool for predicting energy changes that will ultimately reduce or increase protein stability) prediction databases.results: sift database predicted that rs2293024 effects on the protein function. polyphen2 database is predicted this snp probably damaging with a score of 0.958. i-mutant2.0 database is predicted this snp decrease stability and mupro is predicted that rs2293024 decrease the stability of protein structure.conclusion: in conclusion rs2293024 of tdgf1 gene reduces protein stability and probably associated with disease in humans.