Mohanad Abdelrahim^{1, 2,}, Khalid EL.Khalid³, Mohammed Elamin Faris³, Mohamed A.Hassan^{2, 4}, Kamal Elsiddig⁵, Ahmed Siddig Muhammed⁶, Mohammed Nimir⁷, Mahil Abdalla², Asgad Suliman²

Overview: This is translational bioinformatics was focused on analysis of single nucleotide polymorphism of FBN1 gene and reviewing of the previous citations of the damaging SNPs. Introduction: Marfan syndrome is a common autosomal dominant hereditary connective tissue disorder with variable presentations, mutations in FBN1 gene were found to be responsible for Marfan syndrome and other related connective tissue disorders, SNPs contributes to gene mutations and expression variations justifying phenotypic variations among patients and hence such SNPs would be potential target for identification and analysis which may help in early diagnosis of such life threatening disorder. Methods: computational methods were used on this work focusing on analysis of SNPs in the coding regions of FBN1 gene found as non-synonymous variants (ns-SNP) and those in the 3’un-translated regions (3’UTR) affecting miRNA binding using computational methods including SIFT and polyphen for analysis of (nsSNPs), prediction of not previously described SNPs was done using project hope software, while (3’UTR) SNPs was analyzed using PolymiRTS tool functions interactions of FBN1 gene with functionally similar gene were predicted using Genemania software. Results: Out of 1134 ns-SNPs analyzed 38 SNPs were found to damaging while analysis of 175 SNP in 3’UTR prove that 24 SNPs are disturbing to their target sites and 46 SNPs are creating to new target sites.On reviewing of previous citation 31 of the predicted damaging nSNPs were reported as mutations with specific Marfan syndrome presentation while 6 nsSNP were not previously reported with high damaging probability.

marfan syndrome, FBN1 gene, ns-SNPs, 3’UTR SNPs, sift, polyphene, PolymiRTS. project hope, Genemania