Computational analysis of functional single nucleotide polymorphisms associated with NPAS2 gene

نویسندگان

چکیده

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 mammalian circadian rhythms. Various diseases have been linked to single nucleotide polymorphisms (SNPs) in NPAS2. In this study, several computational approaches employed predict SNPs' functional structural consequences investigate deleterious roles of nsSNPs. Two nsSNPs (F190L S105I) were found with predicted functions linking disease. Alongside, from obtained ConSurf result, Q73, E61, K51, E167, L317, R514 expected as highly conserved exposed, while T114, T328, C299 buried. However, establish their role disease pathogenesis, further studies need be done on mutations gene. J. Bangladesh Acad. Sci. 47(1); 53-60: June 2023

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ژورنال

عنوان ژورنال: Journal of Bangladesh Academy of Sciences

سال: 2023

ISSN: ['0378-8121', '2224-7270']

DOI: https://doi.org/10.3329/jbas.v47i1.65576