FB2026_03 , released September 17, 2026
Allele: Hsap\TPI1I170V.Tpi
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General Information
Symbol
Hsap\TPI1I170V.Tpi
Species
H. sapiens
Name
FlyBase ID
FBal0320060
Feature type
allele
Associated gene
Hsap\TPI1
Associated Insertion(s)
TI{TI}TpihTPI.I170V
Carried in Construct
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
phiC31 integrase
(Roland et al., 2015)
cre recombinase
(Roland et al., 2015)
Progenitor genotype
Associated Insertion(s)
TI{TI}TpihTPI.I170V
Cytology
Description

A Hsap\TPI1 coding sequence carrying the disease-associated I170V amino acid replacement is expressed under the control of Tpi regulatory sequences at the endogenous Tpi locus (the human coding sequence replaces the endogenous Drosophila coding sequence). The Hsap\TPI1 coding sequence has been modified to ensure expression in Drosophila (the sequence has been recoded for Drosophila codon usage and has the Drosophila intron-exon and splicing architecture). It was inserted into the Drosophila genome via phiC31:int-mediated integration into the attP site present in TpiattP.

(Roland et al., 2015)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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 ( 0 )
      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.
      (Roland et al., 2015)
      TPI1:p.Ile208Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      TPI1:p.Ile89Val
      TPI1:p.Ile171Val
      TPI1:p.Ile170Val
      Associated human disease model(s)
      External database links
      ClinVar: TPI1_12472
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Hsap\TPI1I170V.Tpi
      hTPII170V
      (Roland et al., 2015)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)