FB2026_03 , released September 17, 2026
Allele: Dmel\HisTP252R.UAS.Tag:MYC
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General Information
Symbol
Dmel\HisTP252R.UAS.Tag:MYC
Species
D. melanogaster
Name
FlyBase ID
FBal0385607
Feature type
allele
Associated gene
Dmel\HisT
Associated Insertion(s)
Carried in Construct
M{UAS-HisT.P252R}
Key Links
Genomic Maps

Transgenic product class
loss_of_function_variant
(Xie et al., 2022)
missense_variant
(Xie et al., 2022)
Mutagen
Nature of the Allele
Transgenic product class
loss_of_function_variant
(Xie et al., 2022)
missense_variant
(Xie et al., 2022)
Mutagen
in vitro construct
(Xie et al., 2022)
Progenitor genotype
Carried in construct
M{UAS-HisT.P252R}
Cytology
Description

UASt regulates expression of a transporter-dead HisT mutant (P252R) that is associated with disease in humans. It is tagged with Tag:MYC.

(Xie et al., 2022)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
HisT
Tagged with
Tag:MYC
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:7,597,638..7,597,638 [-]
Nucleotide change:

C7597638G

Amino acid change:

P252R | HisT-PA; P252R | HisT-PB; P252R | HisT-PC; P252R | HisT-PD

Reported amino acid change:

P252R

Comment:

Analogous mutation in human FLVCR2 implicated in proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Xie et al., 2022)
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.
      (Xie et al., 2022)
      FLVCR2:p.Pro280Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      FLVCR2:p.Pro75Arg
      Associated human disease model(s)
      External database links
      ClinVar: 1091
      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 (1)
      Reported As
      Symbol Synonym
      HisTP252R.UAS.Tag:MYC
      Name Synonyms
      Secondary FlyBase IDs
        References (2)