Analogous mutation in human YARS1 implicated in Charcot-Marie-Tooth disease dominant intermediate C; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.
Ubiquitous expression of Aats-tyr153-156delVKQV.Scer\UAS under the control of Scer\GAL4Act5C.PI induces some lethality.
Neuronal expression of Aats-tyr153-156delVKQV.Scer\UAS usint Scer\GAL4n-syb.PS induces a significant climbing deficit compared with controls.
Expression of one copy of Aats-tyr152-155delVKQV.Scer\UAS under the control of Scer\GAL4Act5C.PU results in normal adult offspring. Expression of two copies of Aats-tyr152-155delVKQV.Scer\UAS results in partial lethality.