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