Comprehensive in silico Analysis of IKBKAP gene that could potentially cause Familial dysautonomia
Year: 2018
Type: preprint
Abstract: Background Familial dysautonomia (FD) is a rare neurodevelopmental genetic disorder within the larger classification of hereditary sensory and autonomic neuropathies. We aimed to identify the pathogenic SNPs in IKBKAP gene by computational analysis software’s, and to determine the structure, function and regulation of their respective proteins. Materials and Methods We carried out in silico analysis of structural effect of each SNP using different bioinformatics tools to predict SNPs influence on protein structure and function. Result 41 novel mutations out of 973 nsSNPs that are found be deleterious effect on the IKBKAP structure and function. Conclusion This is the first in silico analysis in IKBKAP gene to prioritize SNPs for further genetic studies.
DOI: 10.1101/436071
Institution: University of Bahri
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2895010458