FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Act88FR256C
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General Information
Symbol
Dmel\Act88FR256C
Species
D. melanogaster
Name
FlyBase ID
FBal0248514
Feature type
allele
Associated gene
Dmel\Act88F
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Haigh et al., 2010)
Progenitor genotype
Cytology
Description

Amino acid replacement: R256C.

(Haigh et al., 2010)

Nucleotide substitution: C?T.

(Haigh et al., 2010)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:15,441,384..15,441,384 [+]
Nucleotide change:

C15441384T

Reported nucleotide change:

C?T

Amino acid change:

R257C | Act88F-PA

Reported amino acid change:

R256C

Comment:

Analogous mutation in human ACTA1 implicated in myopathy, congenital, ACTA1-related; site of nucleotide substitution in mutant inferred by FlyBase curator based on reported amino acid change.

(Haigh et al., 2010)
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  congenital structural myopathy
      CEA
      (Haigh et al., 2010)
      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.
      (Haigh et al., 2010)
      ACTA1:p.Arg258Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ACTA1:p.Arg256Cys
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The dorsal longitudinal muscles (DLMs) of homozygous flies are not parallel, but appear contorted.

      Ultrastructural analysis shows that indirect flight muscles of homozygous flies lack a regular filament lattice; disorganised thick filament arrays are seen, but no thin filaments are detected. Irregular, fuzzy electron-dense bodies and striped filamentous assemblies ("zebra bodies") are present throughout. The striped assemblies appear to contain or have filaments extending from them with dimensions similar to sarcomeric thin filaments. Less clearly, short filaments are seen within or protruding from the fuzzy electron-dense bodies.

      Ultrastructural analysis shows that indirect flight muscles of heterozygous flies contain extensive disorganized myofibrillar structures, with misaligned thick and thin filament arrays separated by wide Z-discs.

      (Haigh et al., 2010)
      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 (2)
      Reported As
      Symbol Synonym
      Act88FR256C
      (Haigh et al., 2010)
      ID32
      (Haigh et al., 2010)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)