Abstract
Novel or rare variants in mitochondrial tRNA sequences may be observed after mitochondrial DNA analysis. Determining whether these variants are pathogenic is critical, but confirmation of the effect of a variant on mitochondrial function can be challenging. We have used available databases of benign and pathogenic variants, alignment between diverse tRNAs, structural information and comparative genomics to predict the impact of all possible single-base variants and deletions. The Mitochondrial tRNA Informatics Predictor (MitoTIP) is available through MITOMAP at www.mitomap.org. The source code for MitoTIP is available at www.github.com/sonneysa/MitoTIP.
Highlights
Variants in mitochondrial tRNAs are an important and common cause of mitochondrial disease
Novel or rare variants in mitochondrial tRNA sequences may be observed after mitochondrial DNA analysis
To create a profile of the likelihood of pathogenic variants occurring at positions within a generic tRNA secondary structure, the sequence of the mitochondrial tRNAs were aligned by anchoring the sequence to the predicted acceptor, D, anticodon and TψC stems, as well as to the anticodon itself
Summary
Variants in mitochondrial tRNAs are an important and common cause of mitochondrial disease. We have used available databases of benign and pathogenic variants, alignment between diverse tRNAs, structural information and comparative genomics to predict the impact of all possible singlebase variants and deletions. Of all possible variants and single-base deletions from the revised Cambridge Reference Sequence (rCRS) in mitochondrial tRNAs. Our predictive algorithm incorporates an estimation of the importance of a position across all known mitochondrial tRNAs using data from publicly available databases.
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