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Table 5 Annotations for mitochondrial aaRSs

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

aaRS Mutation Sequence spread in homologs (%) Structure RSA Intermolecular interaction Domain Reference
LRS (I) His324Gln ‘H’: 48, ‘K’: 22, ‘C’: 14, ‘-’: 4, ‘R’: 4, ‘N’: 3, ‘P’: 3, ‘A’: 1, ‘G’: 1 H 4.7 - Catalytic [50, 51]
Thr522Asn ‘T’: 86, ‘-’: 14 T 20.4 - Catalytic
Thr629Met ‘T’: 63, ‘L’: 22, ‘-’: 14, ‘V’: 1 E 11.6 - Catalytic
ERS (I) Arg55His ‘R’: 77, ‘K’: 12, ‘-’: 10, ‘L’: 1 H 4.4 - Catalytic [52]
Glu96Lys ‘E’: 79, ‘A’: 10, ‘-’: 8, ‘T’: 3 H 64.9 - Catalytic
Arg107His ‘R’: 79, ‘-’: 15, ‘H’: 2, ‘T’: 2, ‘C’: 1, ‘Q’: 1 T 47.8 - Catalytic
Arg108Trp ‘R’: 78, ‘-’: 15, ‘Q’: 4, ‘E’: 3 T 56.8 - Catalytic
Gly110Ser ‘G’: 84, ‘-’: 15, ‘E’: 1 - 52.8 - Catalytic
Cys167Tyr ‘C’: 83, ‘-’: 15, ‘Q’: 1, ‘R’: 1 - - - Catalytic
Arg168Gly ‘R’: 83, ‘-’: 14, ‘L’: 2, ‘K’: 1 - - - Catalytic
Gly204Ser ‘G’: 82, ‘Y’: 11, ‘-’: 6, ‘V’: 1 E 38.1 - Catalytic
Gly224Ser ‘G’: 81, ‘-’: 17, ‘A’: 1, ‘V’: 1 S 42.8 - Catalytic
Gly317Cys ‘G’: 81, ‘T’: 10, ‘-’: 7, ‘S’: 2 - 44.7 tRNA binding Catalytic
Arg516Gln ‘R’: 71, ‘-’: 11, ‘D’: 10, ‘S’: 3, ‘E’: 2, ‘K’: 2, ‘V’: 1 H 6.4 - C-terminal
YRS (I) Gly46Asp ‘G’: 84, ‘-’: 12, ‘Q’: 2, ‘E’: 1, ‘S’: 1 T 52.3 - - [53, 54]
Phe52Leu ‘F’: 89, ‘-’: 10, ‘Y’: 1 E 28.8 - -
RRS (I) Ile9Val ‘I’: 84, ‘-’: 12, ‘A’: 1, ‘E’: 1, ‘F’: 1, ‘L’: 1 - - - - [55]
Gln12Arg ‘Q’: 53, ‘E’: 25, ‘-’: 11, ‘K’: 6, ‘T’: 3, ‘L’: 1, ‘R‘: 1 - - - -
Trp421Arg ‘W’: 98, ‘-’: 2 H 13.2 - Catalytic
Arg245Gln ‘R’: 98, ‘-’: 2 H 6.8 - Catalytic
Arg469His ‘R’: 99, ‘-’: 1 H 23.4 tRNA binding Editing
SRS (II) Asp390Gly ‘D’: 78, ‘N’: 14, ‘-’: 7, ‘E’: 1 E 1.2 - Catalytic [56]
Arg402His ‘R’: 78, ‘K’: 14, ‘-’: 7, ‘A’: 1 E 14.9 - Catalytic
HRS (II) Leu200Val ‘L’: 100 H 0.0 - Catalytic [57]
Val368Leu ‘V’: 100 H 1.2 - Catalytic
FRS (II) Tyr144Cys ‘Y’: 73, ‘-’: 19, ‘F’: 6, ‘E’: 1, ‘L’: 1 - 0.9 - Catalytic [58]
Ile329Thr ‘I’: 73, ‘-’: 16, ‘W’: 6, ‘L’: 3, ‘G’: 1, ‘V’: 1 G 4.1 - Catalytic
Asp391Val ‘D’: 81, ‘-’: 16, ‘G’: 2, ‘E’: 1 G 26.3 - -
ARS (II) Leu155Arg ‘L’: 97, ‘-’: 3 H 0.0 - Catalytic [59]
Arg592Trp ‘R’: 51, ‘Q’: 20, ‘N’: 20, ‘G’: 6, ‘-’: 3 - - - Catalytic
DRS (II) Ser45Gly ‘S’: 76, ‘-’: 14, ‘N’: 8, ‘E’: 1, ‘K’: 1 S 10.7 Dimerization - [27, 6063]
Cys152Phe ‘C’: 74, ‘A’: 16, ‘-’: 6, ‘Q’: 1, ‘S’: 1, ‘W’: 1, ‘X’: 1 - 31.1 Dimerization -
Arg179His ‘R’: 92, ‘-’: 7, ‘G’: 1 T 28.6 - Catalytic
Leu239Pro ‘L’: 93, ‘-’: 7 - 18.2 - Catalytic
Arg263Gln ‘R’: 79, ‘P’: 16, ‘-’: 5 E 56.0 Dimerization Catalytic
Leu613Phe ‘L’: 74, ‘P’: 15, ‘-’: 11 S 41.4 tRNA binding -
Leu626Gln ‘L’: 73, ‘-’: 25, ‘I’: 2 T 64.0 - -
Leu626Val ‘L’: 73, ‘-’: 25, ‘I’: 2 T 64.0 - -
  1. Mutations that were observed to be naturally present in corresponding aaRSs are highlighted (bold). RSA values (%) in bold indicates buried positions. SS and RSA could not be assigned for residues that were disordered in the crystal structure. Also see Figure 5.