FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Act57BA296S.UAS
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General Information
Symbol
Dmel\Act57BA296S.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0335748
Feature type
allele
Associated gene
Dmel\Act57B
Associated Insertion(s)
Carried in Construct
P{UAS-Act57B.A296S}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Viswanathan et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Viswanathan et al., 2017)
Mutagen
in vitro construct
(Viswanathan et al., 2017)
Progenitor genotype
Carried in construct
P{UAS-Act57B.A296S}
Cytology
Description

UAS regulatory sequences drive expression of Act57B carrying an amino acid substitution equivalent to a variant that has been reported to be associated with hypertrophic cardiomyopathy when mutated in the human ACTC1 ortholog. (FlyBase curator comment: the mutation in the Act57B gene is given as A295S in FBrf0236636, however analysis of the release 6.32 annotated gene model indicates the change to be A296S).

(Viswanathan et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Act57B
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:20,945,689..20,945,689 [+]
Nucleotide change:

G20945689T

Amino acid change:

A296S | Act57B-PA

Comment:

Analogous A297S mutation in human ACTC1 implicated in cardiomyopathy, familial hypertrophic 11; mutation carried on in vitro construct.

(Viswanathan et al., 2017)
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
      CEA
      (Viswanathan et al., 2017)
      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.
      (Viswanathan et al., 2017)
      ACTC1:p.Ala297Ser
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ACTC1:p.Ala295Ser
      Associated human disease model(s)
      External database links
      ClinVar: ACTC1_18325
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of Act57BA295S.Scer\UAS under the control of Scer\GAL4Hand.PU leads to significant decreases in cardiac output, diastolic diameter and systolic diameter, leads to a significant increase in systolic interval to the heart period heart period, but does not lead to any significant changes in heart period, as compared to controls.

      (Viswanathan et al., 2017)
      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 (3)
      Reported As
      Symbol Synonym
      Act57BA295S.Scer\UAS
      Act57BA295S.UAS
      Act57BA296S.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)