In silico analysis of likely pathogenic variants in human GGCX gene

Abstract Genetic polymorphisms in the GGCX gene have been associated with many vitamin K-dependent protein disorders including vitamin K-dependent clotting factors deficiency, osteoporosis, vascular calcification disorders, and pseudoxanthoma elasticum syndrome (PXE). Identifying functional SNPs in disease-associated genes is difficult experimentally; thus it is better to first explore putative functional SNPs. In this study, computational tools have been utilized to identify nsSNPs which are deleterious to the function, stability, and structure of GGCX enzyme, and might be causative agents of these diseases. In silico analysis was performed using different bioinformatics tools, including: SIFT, PolyPhen-2, SNPsG hence they can be assistive when considering experimental studies for disease related to these polymorphisms. Furthermore, mutational studies might be helpful in exploring the precise effects of these SNPs.