Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP

• DOI: 10.1371/journal.pcbi.1005867
• Publication Date: 2017-12-11T13:36:39Z
• Authors: Sanjay Sonney; Jeremy Leipzig; Marie T. Lott; Shiping Zhang; Vincent Procaccio; Douglas C. Wallace; Neal Sondheimer
• Keywords: Genetic Code

Novel or rare variants in mitochondrial tRNA sequences may be observed after DNA analysis. Determining whether these are pathogenic is critical, but confirmation of the effect a variant on function can challenging. We have used available databases benign and variants, alignment between diverse tRNAs, structural information comparative genomics to predict impact all possible single-base deletions. The Mitochondrial Informatics Predictor (MitoTIP) through MITOMAP at www.mitomap.org. source code for MitoTIP www.github.com/sonneysa/MitoTIP.