FB2026_02 , released June 18, 2026
Allele: Dmel\saxK262H.UAS.Tag:FLAG
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General Information
Symbol
Dmel\saxK262H.UAS.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0344029
Feature type
allele
Associated gene
Dmel\sax
Associated Insertion(s)
Carried in Construct
P{UAS-sax.K262H.FLAG}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Le et al., 2018)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Le et al., 2018)
Mutagen
in vitro construct
(Le et al., 2018)
Progenitor genotype
Carried in construct
P{UAS-sax.K262H.FLAG}
Cytology
Description

UASt regulates expression of sax bearing a K262H mutation, which is equivalent to the most common fibrodysplasia ossificans progressiva mutation (R206H) in the human ortholog, Hsap\ACVR1. The construct is tagged at the C-terminus with 3X Tag:FLAG.

(Le et al., 2018)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
sax
Tagged with
Tag:FLAG
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:7,808,224..7,808,226 [+]
Nucleotide change:

AAA7808224CAC

Amino acid change:

K262H | sax-PA; K227H | sax-PB; K274H | sax-PC

Reported amino acid change:

K262H

Comment:

Analogous R206H mutation in human ACVR1 implicated in fibrodysplasia ossificans progressiva; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Le et al., 2018)
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  fibrodysplasia ossificans progressiva
      CEA with gbbUAS.cKa
      (Le et al., 2018)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      FlyBase curator comment: Co-expression of saxK262H.UAS.Tag:FLAG and gbbUAS.cKa are required to induce constitutive BMP signalling equivalent to that induced by expression of Hsap\ACVR1R206H.UAS.Tag:FLAG alone.

      (Le et al., 2018)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Le et al., 2018)
      ACVR1:p.Arg206His
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: ACVR1_18309
      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
      saxK262H.UAS.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (2)