bioRxivBioinformaticsPreprint
Comprehensive in silico Analysis of IKBKAP gene that could potentially cause Familial dysautonomia
Mujahed I. MustafaiD, Enas A. Osman, Abdelrahman H. Abdelmoneiom, Dania M. Hassn, Hadeel M. Yousif, Inshrah K. Mahgoub, Razan M. Badawi, Kutuf A. Albushra, Tebyan A. AbdelhameediD, Mohamed Ahmed Salih HassaniD
Abstract
BackgroundFamilial 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 softwares, and to determine the structure, function and regulation of their respective proteins.\n\nMaterials and MethodsWe carried out in silico analysis of structural effect of each SNP using different bioinformatics tools to predict SNPs influence on protein structure and function.\n\nResult41 novel mutations out of 973 nsSNPs that are found be deleterious effect on the IKBKAP structure and function.\n\nConclusionThis is the first in silico analysis in IKBKAP gene to prioritize SNPs for further genetic studies.
- organism: human
- assay: DNA methylation
- assay: whole-exome sequencing
- research focus: variant effect prediction
- approach: statistical model
- Citations
- 1
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