Novel mutations within PRSS1 Gene that could potentially cause hereditary pancreatitis: Using Comprehensive in silico Approach [article]

Mujahed I. Mustafa, Abdelrahman H. Abdelmoneim, Nafisa M. Elfadol, Soada A. Osman, Tebyan A. Abdelhameed, Mohamed A. Hassan
2019 bioRxiv   pre-print
Hereditary pancreatitis (HP) is an autosomal dominant disorder with incomplete penetrance characterized by recurring episodes of severe abdominal pain often presenting in childhood. The comprehensive in silico analysis of coding SNPs, and their functional impacts on protein level, still remains unknown. In this study, we aimed to identify the pathogenic SNPs in PRSS1 gene by computational analysis approach. Materials and Methods: We carried out in silico analysis of structural effect of each
more » ... l effect of each SNP using different bioinformatics tools to predict Single-nucleotide polymorphisms influence on protein structure and function. Result: Two novel mutations out of 339 nsSNPs that are found be deleterious effect on the PRSS1 structure and function. Conclusion: This is the first in silico analysis in PRSS1 gene, which will be a valuable resource for future targeted mechanistic and population-based studies.
doi:10.1101/519926 fatcat:km5ywbygqvamnc3w2yfdjtms3a