FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\MhcY583S
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General Information
Symbol
Dmel\MhcY583S
Species
D. melanogaster
Name
FlyBase ID
FBal0345161
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Transgenic product class
Nature of the Allele
Transgenic product class
Progenitor genotype
Carried in construct
Cytology
Description

Genomic sequence encompassing the Mhc transcription unit (including its own promoter). The coding sequence has been mutated to carry the Y582S amino acid replacement. This mutation is equivalent to the Y583S mutation in Hsap\MYH3 that is implicated in Freeman-Sheldon syndrome.

Allele components
Component
Use(s)
Regulatory region(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

AT16777019CG

Reported nucleotide change:

TAT>TCG

Amino acid change:

Y582S | Mhc-PA; Y582S | Mhc-PB; Y582S | Mhc-PC; Y582S | Mhc-PD; Y582S | Mhc-PE; Y582S | Mhc-PF; Y582S | Mhc-PG; Y582S | Mhc-PH; Y582S | Mhc-PI; Y582S | Mhc-PK; Y582S | Mhc-PL; Y582S | Mhc-PM; Y582S | Mhc-PN; Y582S | Mhc-PO; Y582S | Mhc-PP; Y582S | Mhc-PQ; Y582S | Mhc-PR; Y582S | Mhc-PS; Y582S | Mhc-PT; Y582S | Mhc-PU; Y582S | Mhc-PV

Reported amino acid change:

Y583S

Comment:

Analogous Y583S mutation in human MYH3 implicated in arthrogryposis, distal, type 2A; mutation carried on in vitro construct.

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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
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.
MYH3:p.Tyr583Ser
Variants Synonym(s)
Associated human disease model(s)
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

MhcY583S homozygosity in a Mhc10 background induces a flightless phenotype and adults typically display a wings-up phenotype; the heterozygosity condition in a Mhc10 background also leads to a significant and progressive decrease in flight ability.

In the MhcY583S, Mhc10 double homozygosity condition, pupal and 2h-old adult indirect flight muscles show regularly packed myofibrils, with six thin filaments around each thick filament and well-formed sarcomeres; however, 2 days-old adult indirect flight muscles show some disruption in myofibril morphology (thick and thin filaments disperse into neighboring myofibrils), and 7 days-old adult indirect flight muscles show continued filament dispersion (some fusion of neighboring myofibrils). In the MhcY583S/+, Mhc10/Mhc10 condition, the pupal and 2h-old adult indirect flight muscles show no obvious defects; however, 2 days-old adult indirect flight muscles show some disruption in myofibril morphology (thick and thin filaments beginning to disperse from myofibrils and possibly fusing with neighboring myofibrils); 7 days-old adult indirect flight muscles show thick and thin filaments merging into neighboring myofibrils.

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
MhcY583S
Name Synonyms
Secondary FlyBase IDs
    References (3)