FB2024_03 , released June 25, 2024
Allele: Dmel\MhcS531P
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General Information
Symbol
Dmel\MhcS531P
Species
D. melanogaster
Name
FlyBase ID
FBal0369972
Feature type
allele
Associated gene
Dmel\Mhc
Associated Insertion(s)
Carried in Construct
P{Mhc.S531P}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Trujillo et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Trujillo et al., 2021)
Mutagen
in vitro construct
(Trujillo et al., 2021)
Progenitor genotype
Mhc+t24.1
(Trujillo et al., 2021)
Carried in construct
P{Mhc.S531P}
Cytology
Description

A S531P mutation has been introduced into the wild type Mhc sequence in Mhc+t24.1. This mutation is equivalent to a S532P change in the orthologous human MYH7 gene, a pathogenic variant associated with dilated cardiomyopathy.

(Trujillo et al., 2021)
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:16,776,865..16,776,865 [+]
Nucleotide change:

T16776865C

Amino acid change:

S531P | Mhc-PA; S531P | Mhc-PB; S531P | Mhc-PC; S531P | Mhc-PD; S531P | Mhc-PE; S531P | Mhc-PF; S531P | Mhc-PG; S531P | Mhc-PH; S531P | Mhc-PI; S531P | Mhc-PK; S531P | Mhc-PL; S531P | Mhc-PM; S531P | Mhc-PN; S531P | Mhc-PO; S531P | Mhc-PP; S531P | Mhc-PQ; S531P | Mhc-PR; S531P | Mhc-PS; S531P | Mhc-PT; S531P | Mhc-PU; S531P | Mhc-PV

Reported amino acid change:

S531P

Comment:

Mutation in analagous codon in human MYH7 implicated in cardiomyopathy associated with dilated cardiomyopathy 1S; mutation carried on in vitro construct; specific disease association inferred by FlyBase curator based on reported amino acid change; site of nucleotide change determined from primer sequences.

(Trujillo et al., 2021)
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  dilated cardiomyopathy 1S
      CEA with Mhc10
      (Trujillo et al., 2021)
      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.
      (Trujillo et al., 2021)
      MYH7:p.Ser532Pro
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 14108
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Mhc10 homozygotes bearing two copies of MhcS531P exhibit a progressive decline in flight ability. Indirect flight muscle (IFM) fibers show reduced power output (with lower work production and slow kinetics); actively beating IFMs exhibit decreased lattice spacing and decreased active number of cross-bridges.

      (Trujillo et al., 2021)
      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
      Partially rescued by

      FBal0369972:, Mhc1 is partially rescued by MhcS531P/MhcS531P

      (Trujillo et al., 2021)
      Partially rescues

      MhcS531P/MhcS531P partially rescues FBal0369972:, Mhc1

      (Trujillo et al., 2021)
      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
      MhcS531P
      Name Synonyms
      Secondary FlyBase IDs
        References (2)