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m.4295A>G, MT-TI (mt-tRNA^Ile), Hypertrophic cardiomyopathy

tRNA variant m.4295A>G
Gene MT-TI (mt-tRNA^Ile)
Disease Hypertrophic cardiomyopathy
Description Reduces aminoacylation efficiency and mitochondrial translation.
tRNAs tdbR00000169, trbR00001076
Publications
  • An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy.
    F Merante, T Myint, I Tein, L Benson, B H Robinson
    Human mutation
    volume: 8 issue: 3 PUBMED ID: 8889580