Skip to main content

Table 1 List of disease-associated mutations in cytoplasmic aaRSs. In case of GRS and KRS, one gene encodes for cytoplasmic and mitochondrial isoforms

From: Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases

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 2 N/neurons
KRS (II) Q15046 (Dimer) Leu133His, Ile302Met, Thr623Ser CMT/neurons