| Autor: |
Tebyan A. Abdelhameed, Mujahed I. Mustafa, Yousif Hm, Badawi Rm, Hassn Dm, Albushra Ka, Mahgoub Ik, E.E.A.M. Osman, Mohamed A. Hassan, Abdelmoneiom Ah |
| Rok vydání: |
2018 |
| Předmět: |
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| DOI: |
10.1101/436071 |
| Popis: |
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 software’s, and to determine the structure, function and regulation of their respective proteins.Materials 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.Result41 novel mutations out of 973 nsSNPs that are found be deleterious effect on the IKBKAP structure and function.ConclusionThis is the first in silico analysis in IKBKAP gene to prioritize SNPs for further genetic studies. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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