Predicting Pathogenicity of Missense Variants in Aminoacyl-tRNA Synthetases Using Structural Information
Liebeskind, Kayla
Liebeskind, Kayla
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Abstract
Variants of uncertain significance have accumulated as genomic tests have become more widespread, complicating diagnoses and requiring resources for re-evaluation. In an attempt to better understand these variants, this project focuses on aminoacyl-tRNA synthetases (ARSs). ARSs are enzymes that work to couple amino acids with their corresponding tRNA. There are many known pathogenic variants in ARSs, but there is a lack of research on the relationship between the location of these variants within the protein and their disease-causing potential. This project shows that a variant�s pathogenicity and its proximity to the ARS-tRNA interface are well correlated. A Bayesian model is created that incorporates existing pathogenicity prediction models with structural binding information.
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Date
1/1/2026
Student Status
Senior (Graduating in 2026)
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Poster
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Biological Science
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College of Arts and Sciences
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Life Science