Bioinformatics Analyses of Single Nucleotide Polymorphism Rs398122807 in Thbd Gene in Recurrent Pregnancy Loss (Rpl)

Background and aim: recurrent pregnancy loss (rpl), which is clinically defined as at least two consecutive pregnancy losses prior to 20 weeks of gestation, is a frequently occurring disease.although several rpl’s aetiologies have been described,the disease is still classified as idiopathic in more than 50% of cases, which underlines the potential involvement of genetic factors. however, only a few studies have revealed links between specific genetic variants and rpl’s origin. thbd, the endothelial cell receptor for thrombin, has been associated with distinct biological processes and considered a coherent rpl-related candidate gene thbd gene is located in 20p11.21. this gene has one exon and 2045 snps which among them 2 snps are pathogenic. rs 398122807 of the thbd gene is located on coding region and is missense mutation (c>a). the protein of thbd gene has 575 amino acids. in this study we analyzed the pathogenicity effects of rs 398122807 in thbd gene. methods: in this study we analyzed the pathogenicity effects of rs 398122807 in thbd gene by mutant (a tool for prediction for protein stability changes ), mu pro ( same as imutant predicts protein stability changes) and provean ( protein variation effect analyzer) prediction databases.results: . imutant and mu pro databases both predicted that rs 398122807 decreases stability and provean database predict that the snp is deleterious .conclusion: in conclusion rs 398122807 of thbd gene reduces protein stability and probably associated with disease in humans.