In Silico analysis of the rs334 mutation in Sickle cell disease

Sickle cell disease (SCD), a most common monogenic disease, caused by a single nucleotide polymorphism (SNP) in the seventh codon of the beta globin, a protein that carries oxygen in red blood cells. [1]. This disease is characterized by anemia and severe acute painful crisis with frequent hospitalizations, limiting the average lifespan [2,3]. The Hemoglobin glu7val mutation (rs334 SNP) causes a glutamic acid to valine substitution in its beta-globin subunit. We investigated the possible effects of this SNP by multiple Bioinformatic analysis, as a preliminary study. In silico analysis showed that rs334 SNP made fundamental changes in the secondary structure of HBB-mRNA. Also, structural analysis of the rs334variation showed a significant effect on HBB physicochemical properties including hydrophobicity and Ramachandran plots. Moreover, the rs334 SNP was demonstrated to be located in a conserved region across multiple mammalian species. In conclusion, predicted possible alterations in local secondary structure and physicochemical properties sound capable of affecting HBB interactions and function.

کلیدواژه ها:

In Silico ، Single Nucleotide Polymorphism (SNP) ، Sickle cell disease (SCD).