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Table 4 List of disease-associated mutations in human mitochondrial aaRSs

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

aaRS (class) ID (state) Substitution mutation(s) Disease(s)/affected organ
LRS (I) Q15031 (Monomer) His324Gln, Thr522Asn, Thr629Met Type-2 Diabetes, premature ovarian failure and hearing loss in Perrault syndrome/ovary and ears
ERS (I) Q5JPH6 (Monomer) Arg168Gly, Gly110Ser, Gly204Ser, Glu96Lys, Lys167Tyr, Gly317Cys, Arg55His, Gly224Ser, Arg107His, Arg108Trp, Arg516Gln Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’/brain
YRS (I) Q9Y2Z4 (Dimer) Gly46Asp, Phe52Leu Myopathy, lactic acidosis, and sideroblastic anemia/muscles and blood cells
RRS (I) Q5T160 (Monomer) Ile9Val, Gln12Arg, Trp241Arg Arg245Gln, Arg469His Ponto cerebellar hypoplasia type 6 (PCH6)/brain
SRS (II) Q9NP81 (Dimer) Asp390Gly, Arg402His HUPRA syndrome/lungs and kidneys
HRS (II) P49590 (Dimer) Val368Leu, Leu200Val Perrault syndrome, ovarian dysgenesis and sensorineural hearing loss or Perrault syndrome/ovary and ears
FRS (II) O95363 (Dimer) Ile329Thr, Asp391Val, Tyr144Cys Fatal infantile alpers encephalopathy, mitochondrial myopathies, diabetes, encephalopathies, and deafness/central nervous system disease, muscles and brain
ARS (II) Q5JTZ9 (Monomer) Leu155Arg and Arg592Trp Infantile cardiomyopathies/heart in new born babies
DRS (II) Q6PI48 (Dimer) Ser45Gly, Cys152Phe, Arg179His, Leu239Pro, Arg263Gln, Leu613Phe, Leu626Gln, Leu626Val Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate/brain