T4465435C
I46T | FIG4-PA
I46T
Analagous mutation in human FIG4 implicated in ALS11 and Charcot-Marie-Tooth disease, type 4J; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.
Scer\GAL4Mef2.PU/FIG4I41T.UAS.Tag:MYC partially rescues FIG4Δ1
Expression of FIG4I41T.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4Mef2.PU partially rescues the lysosome expansion phenotype in somatic muscles of FIG4Δ1 homozygous third instar larvae.