Table 1 List of disease-associated mutations in cytoplasmic aaRSs. In case of GRS and KRS, one gene encodes for cytoplasmic and mitochondrial isoforms
aaRS (Class) | ID (oligomer) | Substitution mutation(s) | Disease/affected organ |
|---|---|---|---|
GRS (II) | P41250 (Dimer) | Ala111Val, Glu125Gly, Pro152Leu, Cys211Arg, Leu183Pro, Pro288Lys, Gly294Arg, Ile334Phe, His472Arg, Asp554Asn, Gly580Arg, Ser635Leu, Gly652Ala | Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (dSMA)/neurons |
LRS (I) | Q9P2J5 (Monomer) | Lys82Arg, Tyr373Cys | Infantile hepatopathy/liver in new born babies |
YRS (I) | P54577 (Dimer) | Gly41Arg, Glu196Lys | Dominant intermediate Charcot-Marie-Tooth disorder type C (DI-CMTC)/neurons |
ARS (II) | P49588 (Monomer) | Asn71Tyr, Arg329His, Glu778Ala, Asp893Asn | dHMN, CMT type 2Â N/neurons |
KRS (II) | Q15046 (Dimer) | Leu133His, Ile302Met, Thr623Ser | CMT/neurons |