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Updated: Jun 18, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
A genomics method to identify pathogenicity-related proteins. Application to aminoacyl-tRNA synthetase-like proteins
Eva Maria Novoa1, Manuel Castro de Moura, Modesto Orozco
1Institute for Research in Biomedicine (IRB), c/ Baldiri Reixac 15-21, 08028 Barcelona, Spain.
Abstract:
During their extended evolution genes coding for aminoacyl-tRNA synthetases (ARS) have experienced numerous instances of duplication, insertion and deletion of domains. The ARS-related proteins that have resulted from these genetic events are generally known as aminoacyl-tRNA synthetase-like proteins (ARS-like). This heterogeneous group of polypeptides carries out an equally varied number of functions that need not be related to gene translation. Several of these proteins remain uncharacterized. At least 16 different ARS-like proteins have been identified to date, but their functions remain incompletely understood. Here we review the individual phylogenetic distribution of these proteins in bacteria, and apply a new genomics method to determine their potential implication in pathogenicity.
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