A benchmark database for variations

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10. Mitochondrial tRNA variation dataset


This dataset is comprised of 146 single nucleotide substitutions in human mitochondrial tRNAs. These variations were classified by Yarham et al. based on evidence from several sources. There are 91 pathogenic and 55 neutral variations in the dataset. This dataset was used to train and test PON-mt-tRNA.

  1. Download: PON-mt-tRNA training and test dataset

References: Yarham JW,Al-Dosary M, Blakley EL, Alston CL, Taylor RW, Elson JL,McFarland R. 2011. A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat 32, 1319-1325.  PUBMED  

Niroula A, Vihinen M. 2016. PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations. Nucleic Acids Res 44(5):2020-2027.  PUBMED