FB2024_03 , released June 25, 2024
Allele: Dmel\Act88FM306L
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General Information
Symbol
Dmel\Act88FM306L
Species
D. melanogaster
Name
FlyBase ID
FBal0362574
Feature type
allele
Associated gene
Dmel\Act88F
Associated Insertion(s)
Carried in Construct
P{Act88F.M306L}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Viswanathan et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Viswanathan et al., 2020)
Mutagen
in vitro construct
(Viswanathan et al., 2020)
Progenitor genotype
Carried in construct
P{Act88F.M306L}
Cytology
Description

Genomic fragment containing Act88F carrying an amino acid substitution equivalent to a M307L change in the orthologous human ACTC1 gene, a variant associated with hypertrophic cardiomyopathy. (FlyBase curator comment: the mutation in the human ACTC1 gene is given as M305L in FBrf0246480, M307L is the change relative to the UniProtKB:P68032 sequence. In addition, the mutation in the Act88F gene is given as M304L in FBrf0246480, however analysis of the release 6.35 annotated gene model indicates the change to be M306L).

(Viswanathan et al., 2020)
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:15,441,531..15,441,531 [+]
Nucleotide change:

A15441531C

Amino acid change:

M306L | Act88F-PA

Comment:

Analogous M307L mutation in human ACTC1 implicated in hypertrophic cardiomyopathy 11; mutation carried on in vitro construct.

(Viswanathan et al., 2020)
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 ( 0 )
      Disease
      Evidence
      References
      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., 2020)
      ACTC1:p.Met307Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      UniProtKB/Swiss-Prot variant: VAR_046504.html
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Heterozygous or homozygous expression of Act88FM306L leads to a reduction in the flight ability of flies when compared to controls.

      Homozygous expression of Act88FM306L in Act88F6 background leads to morphological defects in adult indirect muscles when compared to controls.

      Heterozygous Act88FM306L containing IFM fibers exhibit increased Ca2+ sensitivity when compared to controls.

      (Viswanathan et al., 2020)
      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
      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
      Act88FM305L
      (Viswanathan et al., 2020)
      Act88FM306L
      Name Synonyms
      Secondary FlyBase IDs
        References (2)