In Silico Analysis of Single Nucleotide Polymorphism in Human Prothrombin Gene

• DOI: 10.1055/s-0039-1680245
• Publication Date: 2019-03-06T17:50:06Z
• Authors: I. Farah; A. El-Mubark; M. Osman; A. Soliman; F. Ali; T. Alabid
• Keywords: Nonsynonymous substitution; SNP; SNP genotyping; Tag SNP

Many SNPs in the Prothrombin gene were known to be of clinical significance and associated with variety states. Molecular composition F2 variants could help studying genotypic phenotypic relationship. We used computational methods analyze predict disease either due structural variation or expression dysregulation.F2 contain 2938 Homo sapiens, 202 missense, 5 nonsynonymous, 118 synonymous, 21 3'UTR 10 5'UTR. There two In three different alleles them disrupts miRNA binding site while third one creates new sites. Of missense 17.3% (35/202) damaging by both SIFT Polyphen-2. The then analyzed I-Mutant 100% (35/35) found change protein stability, which 65.7% (23/35) related according PHD-SNP. Damaging presented Project HOPE for further functional analysis Structural modeling. Our work proposes twelve most deleterious affecting human health, SNP ID (rs121918484, rs147456134, rs150569436, rs121918482, rs139552841, rs121918478, rs377462682, rs202003146, rs121918480, rs142495261, rs201577861, rs188001809).