Investigating Variations/SNPs in AUH Gene Causing 3-Methylglutaconic Aciduria, Type I

Investigating Variations/SNPs in AUH Gene Causing 3-Methylglutaconic Aciduria, Type I

Malik Muhammad Sajjad, Sarah Bukhari, Omer Aziz
Copyright: © 2022 |Pages: 13
DOI: 10.4018/IJARB.2022010104
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Abstract

A Single nucleotide polymorphisms (SNPs) is a source variation in a genome. The AUH gene gives guidance about how to generate an enzyme named 3-methylglutaconyl-CoA hydratase. Mutations in AUH gene leads to 3-Methylglutaconic aciduria type I disease. The authors used multiple bioinformatics tools SIFT, Provean, PolyPhen, PHD-SNP, I-Mutant, ConSurf server and Project HOPE to isolate missense SNPs that should be deleterious to the structure and function of the AUH protein. This research aims to analyze the impact of missense SNPs on the structure and function of AUH protein. There have been a total of 259 Missense SNPs obtained, of which 13 mutations were identified as deleterious to the structure and function of the AUH protein. This is the first study in relation to AUH gene missense SNPs where most damaging SNPs associated with the AUH gene were examined using computational analysis. This research could be useful in designing specific medicines for treatment of genomic variation diseases.
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Material And Methods Data Retrieval

The human AUH gene SNP information was collected by visiting NCBI webiste (https://www.ncbi.nlm.nih.gov/snp/). The corresponding AUH gene missense SNPs were extracted according to their rsIDs(Sherry, 2001).

Figure 1 illustrates the workflow, methods and repositories used to identify potential functional SNPs within the human AUH gene.

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Identification Of Damaging Snps

We were used different in silico tools in order to separate the deleterious missense SNPs and for checking the impact of these SNPs on protein function/structure. The study analyzes deleterious missense SNPs only instead of neutral ones.

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