Mutation at a conserved residue in Tpi, equivalent to R189 in Hsap\TPI1, mutation of which is associated with triosephosphate isomerase deficiency. The mutated copy has been inserted into the attP site present in TpiattP. FlyBase curator comment: the amino acid substitution in Tpi is given as R187S, but there is no R residue at position 187 in the reference sequence, instead the change has been mapped to residue 188).
C30133424A
R289S | Tpi-PA; R188S | Tpi-PB; R188S | Tpi-PC
R188S
Site of nucleotide substitution in mutant and position of mutation on genomic sequence inferred by FlyBase curator from the reported amino acid change. Analogous mutation in human TPI1 implicated in triosephosphate isomerase deficiency; mutation carried on in vitro construct.
See ClinVar 627563.