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Page 54 Franz et al. J Transl Genet Genom 2020;4:50-70 I https://doi.org/10.20517/jtgg.2020.13

Ref.
[37-54] [46-55] [56-63] [64-70] [71-77] [78-81] [82-85] [86-92] [67,93-98] [97-101] [102-107] [56,108-111] [112-117]

Others x x x x x x x x x x

Neuropathy
Table 1. List of currently known tRNA modifiers (Part A: modification) and aminoacyl-tRNA synthetases (Part B: aminoacylation) that have been associated with ID

Hypomyelination

Myopathy

Seizures

Ataxia

Hypotonia

Microcephaly x x x x x x x x

ID dominant x Recessive x Recessive x Recessive x Recessive x Recessive x Recessive x Recessive x Recessive x Recessive x Dominant x Recessive x Recessive x Recessive
Chromosome Localization Recessive/ location Cytopl Nucleus Cytopl/ nucleus Mito/nucleus 19p13.13 Cytopl Cytopl/ nucleus Cytopl/ nucleus Nucleus Cytopl/ nucleus Cytopl/ nucleus Cytopl 16q24.3 Cytopl/ nucleus Cytopl 12q24.33

Modification Xp11.23 Cm, Gm, ncm 5 Um 5p15.31 m 5 C 21q22.3 m 7 G m 2 2 G 19p13.3 I 11q22.3 mcm 5 U, mcm 5 s 2 U 2p13.1 t 6 A 4q23 m 1 G 18q12.2 mcm 5 U, mcm 5 s 2 U 11p13 mcm 5 s 2 U mcm 5 s 2 U 11q24.2 Ψ Ψ

Mutation c.[192-2A>G] (G65Cfs*18); c.[G121+1delG] (G41fs*V*19); c.[196C>T] (Q66*); c.[655G>A] c.[679C-T] (Q227X); c.[1114C-T] (Q372X); c.[2035G-A] (G679R) c.[509G-T] (R170L); c.[509G-A] (R170Q); c.[491A-C] (D164A); c.[940dupC] (L314Pfs*16); c.[911_927dup] (Q310Gfs*30) c.[1506+1G-T]; c.[1332_1333delGT] (Y445Lfs*28); c.[657_688del32] (Q219Hfs*22) c.[382G-A] (V128M); c.[99_106dupGAGCCCGG] c.[1660C-T] (R554X); (W599Gf

Part A: modification (D219N) (E36Gfs*44) c.[1794delC] (T555P); (H271R) (S394Cfs*18)

Gene FTSJ1 NSUN2 WDR4 TRMT1 ADAT3 ALKBH8 KEOPS TRMT10A ELP2 ELP4 CTU2 PUS3 PUS1