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Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.

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.

SUBMITTER: Sonney S

PROVIDER: S-EPMC5739504 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.

Sonney Sanjay S Leipzig Jeremy J Lott Marie T MT Zhang Shiping S Procaccio Vincent V Wallace Douglas C DC Sondheimer Neal N

PLoS computational biology 20171211 12

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 t ...[more]

PMID: 29227991

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