Table 2.
Models for aaRS-related CMT in D. melanogaster.
Human Gene |
D. melanogaster Orthologue % Identity at Protein Level |
Modeled CMT Mutation | Reference |
---|---|---|---|
hGARS1 |
GlyRS (dGARS) 54 |
E71G | [44,65] |
L219P | [65] | ||
P234KY * | [43,64] | ||
G240R | [43,44,64] | ||
G526R | [44] | ||
hYARS1 |
TyrRS (dYARS) 67 |
G41R | [33,43,44] |
E196K | |||
153–156delVKQV | |||
K265N | [66] |
*—corresponding to P278KY in the mouse orthologue; dGARS & dYARS: D. melanogaster orthologues, hYARS1 & hGARS1: human orthologues.