FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\MhcR249Q
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General Information
Symbol
Dmel\MhcR249Q
Species
D. melanogaster
Name
FlyBase ID
FBal0350221
Feature type
allele
Associated gene
Dmel\Mhc
Associated Insertion(s)
Carried in Construct
P{Mhc.R249Q}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Bell et al., 2019)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Bell et al., 2019)
Mutagen
in vitro construct
(Bell et al., 2019)
Progenitor genotype
Mhc+t24.1
(Bell et al., 2019)
Carried in construct
P{Mhc.R249Q}
Cytology
Description

The R249Q amino acid replacement has been introduced into a genomic fragment containing the Mhc transcription unit. The equivalent amino acid change is associated with hypertrophic cardiomyopathy in humans.

(Bell et al., 2019)
Allele components
Component
Use(s)
Regulatory region(s)
Mhc
Encoded product / tool
Mhc
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:16,770,924..16,770,925 [+]
Nucleotide change:

GT16770924AG

Reported nucleotide change:

CGT>CAG

Amino acid change:

R248Q | Mhc-PA; R248Q | Mhc-PB; R248Q | Mhc-PC; R248Q | Mhc-PD; R248Q | Mhc-PE; R248Q | Mhc-PF; R248Q | Mhc-PG; R248Q | Mhc-PH; R248Q | Mhc-PI; R248Q | Mhc-PK; R248Q | Mhc-PL; R248Q | Mhc-PM; R248Q | Mhc-PN; R248Q | Mhc-PO; R248Q | Mhc-PP; R248Q | Mhc-PQ; R248Q | Mhc-PR; R248Q | Mhc-PS; R248Q | Mhc-PT; R248Q | Mhc-PU; R248Q | Mhc-PV

Reported amino acid change:

R249Q

Comment:

Analogous R249Q mutation in human MYH7 implicated in hypertrophic cardiomyopathy; mutation carried on in vitro construct.

(Bell et al., 2019)
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  familial hypertrophic cardiomyopathy
      CEA with Mhc10
      (Bell et al., 2019)
      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.
      (Bell et al., 2019)
      MYH7:p.Arg249Gln
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: MYH7_14088
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The overall morphology of DLM fibers in MhcR249Q/MhcR249Q, Mhc10/Mhc10 and MhcR249Q/+, Mhc10/Mhc10 adults is comparable to controls. At the ultrastructure level, MhcR249Q/MhcR249Q, Mhc10/Mhc10 individuals show no defects in late pupae and in 2h-old adults, but 2 days-old adults show minor degradation of the hexagonal packing around the fibre edges and 7 days-old adults show severe fiber disruption; MhcR249Q/+, Mhc10/Mhc10 individuals show no obvious defects.

      In both MhcR249Q/MhcR249Q, Mhc10/Mhc10 and MhcR249Q/+, Mhc10/Mhc10 adults, these indirect flight muscles have altered kinetics, including significant decreases in active tension, power generation and net work, but unaltered passive tension, as compared to controls. MhcR249Q/MhcR249Q, Mhc10/Mhc10 adults, but not MhcR249Q/+, Mhc10/Mhc10 adults show significantly altered cross-bridge kinetics, including decreased maximum frequency of muscle length oscillation, increased 2πc and decreased 2πb.

      (Bell et al., 2019)
      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
      MhcR249Q
      Name Synonyms
      Secondary FlyBase IDs
        References (3)