FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Act57BA331P.UAS
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General Information
Symbol
Dmel\Act57BA331P.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0407378
Feature type
allele
Associated gene
Dmel\Act57B
Associated Insertion(s)
Carried in Construct
P{UAS-Act57B.A331P}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Doran et al., 2025)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Doran et al., 2025)
Mutagen
in vitro construct
(Doran et al., 2025)
Progenitor genotype
Carried in construct
P{UAS-Act57B.A331P}
Cytology
Description

UASt regulatory sequences drive expression of Act57B carrying the A331P amino acid substitution.

(Doran et al., 2025)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Act57B
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:20,945,797..20,945,797 [+]
Nucleotide change:

G20945797C

Amino acid change:

A332P | Act57B-PA

Reported amino acid change:

A331P

Comment:

Analogous mutation in human ACTC implicated in cardiomyopathy, familial hypertrophic 11; mutation carried on in vitro construct. The reported position on the protein is relative to the human protein.

(Doran et al., 2025)
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  hypertrophic cardiomyopathy 11
      CEA
      (Doran et al., 2025)
      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.
      (Doran et al., 2025)
      ACTC1:p.Ala333Pro
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ACTC1:p.Ala331Pro
      Associated human disease model(s)
      External database links
      ClinVar: 18329
      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
      Act57BA331P.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)