1. Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase
- Author
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Amal Kumar Bandyopadhyay, Sahini Banerjee, Arnab Nayek, Parth Sarthi Sen Gupta, Rifat Nawaz Ui Islam, and Malay Kumar Rana
- Subjects
Genetics ,chemistry.chemical_classification ,Homogentisate 1,2-Dioxygenase ,education ,General Medicine ,Biology ,Alkaptonuria ,medicine.disease ,Molecular Docking Simulation ,Enzyme ,chemistry ,Structural Biology ,Mutation ,Mutation (genetic algorithm) ,medicine ,Humans ,Genes, Lethal ,Molecular Biology ,Function (biology) ,Homogentisate 1,2-dioxygenase - Abstract
Alkaptonuria (AKU) is an autosomal recessive disorder, which is caused by a site-specific mutation(s) and thus, impaired the function of Homogentisate-1, 2-dioxygenase (HGD), an essential enzyme for the catabolism of phenylalanine and tyrosine. Among frameshift, intronic, splice-site and missense mutations, the latter has been the most common form of genetic variations for the disease. How do the acquired mutations in HGD correlate with the disease? Systematic staged-screening of some sixty-five mutations, which are known to have a relation with the disease, by GVGD, SIFT, SNAP, PANTHER, SDM, PHD-SNP, Meta-SNP, Pmut and Mutpred methods, showed that mutations
- Published
- 2020