Computational analysis of functional single nucleotide polymorphisms associated with NPAS2 gene

Abstract

Circadian rhythm is a natural physiological process that regulates the sleep-wake cycle and occurs about every 24 hours. The fundamental molecular clock, NPAS2 (Neuronal PAS Domain Protein 2), generates and regulates mammalian circadian rhythms. Various diseases have been linked to single nucleotide polymorphisms (SNPs) in NPAS2. In this study, several computational approaches have been employed to predict the SNPs' functional and structural consequences and investigate the deleterious roles of nsSNPs. Two deleterious nsSNPs (F190L and S105I) were found with predicted functions linking to disease. Alongside, from the obtained ConSurf result, Q73, E61, K51, E167, L317, and R514 were expected as highly conserved and exposed, while T114, T328, and C299 were predicted as highly conserved and buried. However, to establish their role in disease pathogenesis, further studies need to be done on the deleterious mutations of the NPAS2 gene.

J. Bangladesh Acad. Sci. 47(1); 53-60: June 2023