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Page 56 Franz et al. J Transl Genet Genom 2020;4:50-70 I https://doi.org/10.20517/jtgg.2020.13
[146-151] [129,152-158] [159-164] [160,163,165-168] [166,169-173] [9,159,174-176]
x x x x
x
x
x x
x x x x
x
x x cytopl: localization in cytoplasm; mito: localization in mitochondria; others: prenatal growth retardation, speech and hearing impairment, aggressive behavior, encephalocardiomyopathy, pontocerebellar that are necessary for methylation at positions 32 and 34 in the anticodon loop, respectively. Trm7 interacts with Trm732 to methylate tRNAs encoding Trp (CCA), Phe (GAA) and Leu (UAA) at po
x x x x x x hypoplasia, multiple respiratory chain complex defects, infantile onset developmental delay; abbreviations for tRNA modifications are according to the MODOMICS database [177]
Recessive Recessive Recessive Recessive Recessive Recessive
Cytopl/mito Cytopl/mito Mito Mito Mito Mito
3p21.31 16q23.1 11p14.1 1p32.3 6q15 1p12 tRNA modification status in these cells has not been investigated.
c.[1426G>A] (V476I); c.[1207C-T] (R403W); c.[134G-T] (G45V); c.[1543C-T] (R515W) c.[398T-A] (L133H); c.[517T-C] (Y173H); c.[1129G-A] (D377N) c.[822G-C] (Q274H); c.[641C-T] (P214L); c.[969T-A] (Y323X); c.[1142A-G] (N381S); c.[637G-T] (V213F); c.[167A-G] (Q56R); c.[631T-A] (F211I); c.[707T-G] (F236C); c.[1184T-G] (L395R); c.[151C-T] (R51C); c.[500A-G] (H167R) c.[836C-T] (S279L); c.[1091C-G] (P364R); c.[239T-C] (I80T); c
QARS KARS NARS2 PARS2 RARS2 WARS2
