• In‐Silico Screening and Molecular Dynamics Simulation of Deleterious PAH Mutations Responsible for Phenylketonuria Genetic Disorder

    1 month ago - By Wiley

    Abstract
    Phenylketonuria is a genetic disorder that if left untreated can lead to behavioral problems, epilepsy, and even mental retardation. PKU results from mutations within the phenylalanine‐4‐hydroxylase gene that encodes for the PAH protein. The study of all PAH causing mutations is improbable using experimental techniques. In this study, a collection of in silico resources, SIFT, Polyphen‐2, PhD‐SNP, and MutPred were used to identify possible pathogenetic and deleterious PAH non‐synonymous single nucleotide polymorphisms. We identified two variants of PAH, I65N and L311P, to be the...
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