bioRxivBioinformaticsPreprint
Thirty two novel nsSNPs May effect on HEXA protein Leading to Tay-Sachs disease (TSD) Using a Computational Approach
Tebyan A. AbdelhameediD, Mohamed Mustafa Osman Fadul, Dina Nasereldin Abdelrahman Mohamed, Amal Mohamed MudawiiD, Sayaf Kamal Khalifa Fadul Allah, Ola Ahmed Elnour Ahmed, Sogoud Mohammednour Idrees Mohammeddeen, Aya Abdelwahab Taha khairi, Soada Ahmed Osman, Ebrahim Mohammed Al-HajjiD, Mustafa ElhagiD, Mohamed Ahmed Hassan Salih
Abstract
BackgroundGenetic polymorphisms in the HEXA gene are associated with a neurodegenerative disorder called Tay-Sachs disease (TSD) (GM2 gangliosidosis type 1). This study aimed to predict the possible pathogenic SNPs of this gene and their impact on the protein using different bioinformatics tools.\n\nMethodsSNPs retrieved from the NCBI database were analyzed using several bioinformatics tools. The different algorithms collectively predicted the effect of single nucleotide substitution on both structure and function of the hexosaminidase A protein.\n\nResultsFifty nine mutations were found to be highly damaging to the structure and function of the HEXA gene protein.\n\nConclusionAccording to this study, thirty two novel nsSNP in HEXA are predicted to have possible role in Tay-Saches Disease using different bioinformatics tools. Our findings could help in genetic study and diagnosis of Tay-Saches Disease.
- organism: human
- assay: GWAS summary statistics
- research focus: variant effect prediction
- approach: statistical model
- Citations
- 1
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