FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Allele: Dmel\TpiR188L
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General Information
Symbol
Dmel\TpiR188L
Species
D. melanogaster
Name
FlyBase ID
FBal0352450
Feature type
allele
Associated gene
Dmel\Tpi
Associated Insertion(s)
TI{TI}TpiR188L
Carried in Construct
Key Links
Genomic Maps

Allele class

hypomorphic allele - molecular evidence

Mutagen
Nature of the Allele
Allele class

hypomorphic allele - molecular evidence

(Roland et al., 2019)
Mutagen
phiC31 integrase
(Roland et al., 2019)
Progenitor genotype
TI{TI}TpiattP
(Roland et al., 2019)
Associated Insertion(s)
TI{TI}TpiR188L
Cytology
Description

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 R187L, but there is no R residue at position 187 in the reference sequence, instead the change has been mapped to residue 188).

(Roland et al., 2019)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:30,133,423..30,133,423 [-]
Nucleotide change:

G30133423T

Amino acid change:

R289L | Tpi-PA; R188L | Tpi-PB; R188L | Tpi-PC

Reported amino acid change:

R188L

Comment:

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.

(Roland et al., 2019)
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Expression Data
      Reporter Expression
      Additional Information
      Statement
      Reference
       
      Marker for
      Reflects expression of
      Reporter construct used in assay
      Human Disease Associations
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 1 )
      Disease
      Evidence
      References
      model of  triosephosphate isomerase deficiency
      CEA with TpiM80T
      (Roland et al., 2019)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Roland et al., 2019)

      See ClinVar 627563.

      TPI1:p.Arg227Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      TPI1:p.Arg108Ala
      TPI1:p.Arg190Leu
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      TpiM80T/TpiR187L individuals are bang sensitive.

      (Roland et al., 2019)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Fails to complement

      TpiM80T

      (Roland et al., 2019)
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      TPIR187L
      (Roland et al., 2019)
      TpiR187L
      TpiR188L
      Name Synonyms
      Secondary FlyBase IDs
        References (2)