FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\TpiR188A
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General Information
Symbol
Dmel\TpiR188A
Species
D. melanogaster
Name
FlyBase ID
FBal0352448
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Associated Insertion(s)
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 R187A, but there is no R residue at position 187 in the reference sequence, instead the change has been mapped to residue 188).

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

CG30133424GC

Amino acid change:

R289A | Tpi-PA; R188A | Tpi-PB; R188A | Tpi-PC

Reported amino acid change:

R188A

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.

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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
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.

See ClinVar 627563.

TPI1:p.Arg227Ala
Variants Synonym(s)
TPI1:p.Arg108Ala
TPI1:p.Arg190Ala
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

TpiM80T/TpiR187A individuals are bang sensitive.

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
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
TpiR187A
TpiR188A
Name Synonyms
Secondary FlyBase IDs
    References (2)