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International Journal of Computational Bioinformatics and In Silico Modeling
2014: Volume-3 Issue-5
ISSN: 2320-0634

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ABSTRACT   REFERENCES  
International Journal of Computational Bioinformatics and In Silico Modeling 3(5) 2014: 502-513

In Silico analysis of Single Nucleotide Polymorphisms (SNPs) in human FANCA gene



Abubaker H. Mohamed1, Ozaz Y. Mohammed2, Sami AB. Salam1, Hadeel A. Yousif4*, Mohamed M.Hassan1, Hazim H. Kaheel3 and Mohamed A.Hassan1,6

1 Department of Bioinformatics, Africa city of Technology, Sudan
2 Department of Hematology, University of Gezir, Sudan
3 University, HNO –universities Klink-Tuebingen, Germany
4 Faculty of Pharmacy, University of Khartoum, Sudan
5 Division of Molecular Genetics, University of Tuebingen, Germany

* Corresponding Author

ABSTRACT

Single-nucleotide polymorphisms (SNPs) play a major role in the understanding of the genetic basis of many complex human diseases. Also, the genetics of human phenotype variation could be understood by knowing the functions of these SNPs owing to the importance of FANCA gene in a post replication repair or a cell cycle checkpoint function. In this work, we have analyzed the genetic variation that can alter the expression and the function of the FANCA gene using computational methods. Genomic analysis of FANCA was initiated Polyphen and SIFT server used to retrieve 16 harmful mutations, among of these 16 nsSNPs damaged SNPs five non-synonymous SNPs showed very damaging by higher PSIC score of the Polyphen server with a SIFT tolerance index of 0.00-0.01 (R318M, I493T, A610T, P739L, R1117G). Protein structural analysis with these amino acid variants was performed by using I-Mutant and Modeling amino acid substitution with chimera software to check their stability and the effect of the native and mutant residues protein and structure for all 16 nsSNPs damaged. Screening for these SNPs variants in coding region may be useful for Fanconi anemia disease molecular diagnosis. Of the total 229 SNPs in 3′UTR region of FANCA gene, 24 SNPs were found in the 3′ UTR contain alleles can be disrupts a conserved miRNA site, therefore might change the protein expression levels.

 


Copyright © 2014 | AIZEON publishers | All rights reserved

 

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Citation: Abubaker H. Mohamed et al. (2014). In Silico analysis of Single Nucleotide Polymorphisms (SNPs) in human FANCA gene. Int J Comput Bioinfo In Silico Model 3(5): 502-513

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