Abstract
COMPUTATIONAL ANALYSIS OF FUNCTIONAL SINGLE NUCLEOTIDE POLYMORPHISM OF HUMAN EUKARYOTICS TRANSLATION INITIATION FACTOR2 B1 (EIF2B1) GENE

Mona A. Basheir*, Afra M. Bakri, Hind A. Elnasri and Mona A. M. Khaier

ABSTRACT

Introduction: Leukoencephalopathy with vanishing white matter (VWM) is a progressive disorder that mainly affects the brain and spinal cord. This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin sheath; it is highly complex and not fully understood yet. This study aimed to perform a computational analysis of the nsSNPs in the EIF2B1 gene, to identify the possible mutations and propose a modeled structure for the mutant protein that potentially affects its function. Methods: The nsSNPs were analyzed using 8 prediction software tools: SIFT, Polyphen-2, Provean, PhD-SNP, SNP&GO, I-Mutant 3.0, Mupro and Project Hope respectively. Results: Fifteen nsSNPs were found to be deleterious and damaging by SIFT, and 14 nsSNPs by PolyPhen-2, 12 nsSNPs by Provean, 5 nsSNPs were observed to be highly deleterious and damaging as in the 8 software. Conclusion: Five highly deleterious, damaging and disease related nsSNPs (rs113994007, rs150217005, rs201516905, rs375037006, and rs377538766) were detected at EIF2B1 gene. These nsSNPs can be considered as candidate nsSNPs in people with VWM after further conformation using laboratory techniques.

Keywords: Leukoencephalopathy (VWM), nsSNPs, EIF2B1, SIFT, Polyphen-2 and Project Hope.


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