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Updated: Jul 9, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Pharmacogenomics: analysing SNPs in the CYP2D6 gene using amino acid properties
Mark T W Ebbert1, Wesley A Beckstead, Timothy D O'Connor
1Department of Integrative Biology and Computer Science, Brigham Young University, 3370 TMCB, Provo, Utah 84602, USA. marktwe@byu.net
Abstract:
The CYP2D6 gene is responsible for metabolising a large portion of the commonly prescribed drugs. Because of its importance, various approaches have been taken to analyse CYP2D6 and Single Nucleotide Polymorphisms (SNPs) throughout its sequence. This study introduces a novel method to analyse the effects of SNPs on encoded protein complexes by focusing on the biochemical properties of each non-synonymous substitution using the program TreeSAAP. Our results show four SNPs in CYP2D6 that exhibit radical changes in amino acid properties which may cause a lack of functionality in the CYP2D6 gene and contribute to a person's inability to metabolise specific drugs.
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