COMPUTATIONAL ANALYSIS OF SINGLE NUCLEOTIDE POLYMORPHISM OF HUMAN CFH GENE
Reem A. Osman, Afra M. Al Bkrye, Hind Abdelaziz Elnasri and Mona Abdelrahman Mohamed Khaier*
ABSTRACT
Introduction: Factor H is a plasma protein that controls activation of the complement system in the fluid phase, the mutations in CFH gene causes impaired regulation of the alternative pathway (C3bBb) production of abnormal protein. This protein had been associated with a typical haemolytic-uremic syndrome. This study will focuses on predicting the effects of single nucleotide polymorphisms, nsSNPs that have been reported in CFH gene using computational analysis. Materials and Methods: Data about CFH gene was retrieved from NCBI database and were analyzed by computational software. Coding region of SNPs that are non-synonymous (nsSNPs) detected by (GeneMANIA, SIFT, Polyphen, PROVEAN, SNPs&GO, PHD-SNPs, I-mutant, MUpro and Project Hope) software. SNPs at un-translated region at3 ends (3UTR) and SNPs at un-translated region at 5ends (5UTR) were analyzed by SNPs function prediction software. Results: 357are the total SNPs in CFH gene reported in Homo sapiens, 309 SNPs in the coding region, 18 in the 3UTR and 30 in the 5UTR. Only SNPs present in the coding region, 3UTR and 5UTR regions were selected for analysis. Conclusion: seventeen nsSNPs were highly damaging and affect the function and stability of the protein, the score with PSIC SD range (1-0.99) and TOLERANCE INDEX equal(0-), Only one nsSNPs (rs121913051) from these seventeen nsSNPs was reported to be disease related by previous studies.
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