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Table 2 Annotations for cytoplasmic aaRSs - mutations that were observed to be naturally present in corresponding mammalian aaRSs are highlighted (bold)

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

References

GRS (II)

Ala111Val

‘A’: 77, ‘S’: 21, ‘E’: 1, ‘-’: 1

NA

NA

-

-

[33–39]

Glu125Gly

‘E’: 84, ‘-’: 10, ‘D’: 6

H

22.7

-

-

Pro152Leu

‘P’: 99, ‘-’: 1

H

75.0

Dimerization

-

Leu183Pro

‘L’: 90, ‘-’: 8, ‘M’: 1, ‘V’: 1

E

54.3

Dimerization

Catalytic

Cys211Arg

‘C’: 100

E

34.8

Dimerization

Catalytic

Pro288Lys

‘P’: 98, ‘-’: 2

S

94.1

Dimerization

Catalytic

Gly294Arg

‘G’: 81, ‘-’: 16, ‘P’: 1, ‘K’: 1, ‘T’: 1

E

0.0

-

Catalytic

Pro298Leu

‘P’: 97, ‘-’: 3

S

0.7

-

Catalytic

Ile334Phe

‘I’: 81, ‘-’: 8, ‘L’: 8, ‘V’: 2, ‘C’: 1

S

11.2

Dimerization

Catalytic

His472Arg

‘H’: 80, ‘-’: 20

H

3.3

-

-

Asp554Asn

‘D’: 81, ‘-’: 8, ‘K’: 7, ‘G’: 2, ‘N’: 1, ‘S’: 1

-

-

-

-

Gly580Arg

‘G’: 92, ‘-’: 8

E

14.3

-

-

Ser635Leu

‘S’: 83, ‘-’: 8, ‘T’: 7, ‘A’: 2

H

24.6

-

C-terminal

Gly652Ala

‘G’: 85, ‘H’: 8, ‘-’: 7

S

46.4

-

C-terminal

LRS (I)

Lys82Arg

‘K’: 81, ‘-’: 18, ‘N’: 1

-

22.4

-

Catalytic

[40]

Tyr373Cys

‘Y’: 100

E

21.3

-

Catalytic

YRS (I)

Gly41Arg

‘G’: 74, ‘-’: 26

E

40.4

ATP/amino-acid binding

Catalytic

[41]

Glu196Lys

‘E’: 74, ‘-’: 25, ‘P’: 1

H

16.9

-

Catalytic

ARS (I)

Asn71Tyr

‘N’: 97, ‘-’: 3

E

0.0

-

Catalytic

[42–44]

Arg329His

‘R’: 98, ‘-’: 2

H

4.3

-

Catalytic

Glu778Ala

‘E’: 79, ‘T’: 10, ‘A’: 6, ‘G’: 2, ‘S’: 2, ‘V’: 1

-

-

-

-

Asp893Asn

‘D’: 75, ‘P’: 21, ‘N’: 2, ‘X’: 1, ‘-’: 1

-

-

-

-

KRS (II)

Leu133His

‘L’: 100

H

2.4

 

Anti-codon binding

[45, 46]

Ile302Met

‘I’: 100

S

29.5

 

Catalytic

Thr623Ser

‘T’: 77, ‘P’: 16, ‘-’: 4, ‘A’: 1, ‘M’: 1, ‘V’: 1

-

-

 

-

  1. RSA values (%) in bold indicate buried positions that were ordered in the crystal structures. Also see Figure 2.
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BMC Genomics

ISSN: 1471-2164

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