Revista de investigación de la sangre y enfermedades hematológicas

Haemophilia B PMS1 Gene SNPs Predictions through Insilico Approach at Proteomics Levels

Hiba Siddig Ibrahim

Hemophilia is one of the important hereditary disease that leading to deficiency in some clotting factors due to gene mutations beside this it related most important hematologic parts; anemia, the aim of this study is to identify the PMS1 (hemophilia B) gene SNPs and to predict mutation effects of this gene at the proteomic level, through in silico tools such as proven, sift, polyphen-2, I mutant suite-3, SNPs & GO, finally Meta-snp prediction. A according to these predictions tools & their confirmations I found that PMS1 gene SNPs showed damaging prediction which was considered as clinical manifestation in this study beside these a lots of SNPs illustrate decreasing in protein functionality; unfortunately 26 SNPs showed prediction results just with sift & proven predictions software and these explain why they were excluded from this study with those showed benign predictions by polyphen-2, in addition to confirmation of ORMDL1 gene SNPs that located at the same PMS1 gene chromosome had the same clinical effect such as PMS1 gene SNPs.