Proteomic Translation of Chronic Granulomatous Disease (CGD)
Journal: Journal of Proteomics & Computational Biology (Vol.3, No. 1)Publication Date: 2017.6.30
Authors : Hiba Siddig Ibrahim;
Page : 1-12
Keywords : CGD; NADPH oxidase; Mulch pneumonitis;
Abstract
Chronic granulomatous disease considered as one of the congenital hereditary disease that present due to mutation in one of these following genes; CYBA, CYBB, NCF1, NCF2, or NCF4 gene in X chromosome, that lead to lack a body defense mechanisms against infections specially bacterial & fungal infections due to absence of NADPH oxidase productions in phagocytic cells; lungs is the most common site of infections. Sometimes the causes of CGD is unknown & we did not have a scientific explanation for this; the main aim of this study is to identify the CYBB gene SNPs change in a way to predict mutation effects of this gene at the proteomic level; through in silicotools by using sift, polyphen-2, I mutant suite-3, SNPs & GO software prediction programs for SNPs detections. A according to these .predictions tools & their confirmations tools I found that CYBB gene SNPs mutation showed damaging predictions which was considered as clinical manifestation of this study beside this; a lots of those SNPs ..illustrate decreasing in protein functionality even those that were predicted benign by polyphen-2.
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Last modified: 2017-12-13 18:09:00