FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Act88FA331P
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General Information
Symbol
Dmel\Act88FA331P
Species
D. melanogaster
Name
FlyBase ID
FBal0407379
Feature type
allele
Associated gene
Dmel\Act88F
Associated Insertion(s)
Carried in Construct
P{Act88F.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{Act88F.A331P}
Cytology
Description

Genomic fragment containing Act88F carrying the A331P mutation.

(Doran et al., 2025)
Allele components
Component
Use(s)
Regulatory region(s)
Act88F
Encoded product / tool
Act88F
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:15,441,670..15,441,670 [+]
Nucleotide change:

G15441670C

Amino acid change:

A332P | Act88F-PA

Reported amino acid change:

A331P

Comment:

Analogous mutation in human ACTC implicated in cardiomyopathy, familial hypertrophic 11; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change. 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 with Act88F6
      (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
      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
      Act88FA331P
      (Doran et al., 2025)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)