FB2024_03 , released June 25, 2024
Allele: Dmel\cherG1789S
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General Information
Symbol
Dmel\cherG1789S
Species
D. melanogaster
Name
FlyBase ID
FBal0385484
Feature type
allele
Associated gene
Dmel\cher
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
piggyBac activity
(Ader et al., 2022)
Progenitor genotype
PBac{ScarlessHD-DsRed}cherG1789S.STOP
(Ader et al., 2022)
Cytology
Description

A G1789S amino acid replacement (coordinates relative to the cher-PA isoform) has been introduced into the endogenous cher locus. The G1789S change is equivalent to a G2299S change in the orthologous human FLNC gene, a variant identified in patients with hypertrophic cardiomyopathy. Generated by excision of the PBac{ScarlessHD-DsRed} marker element in PBac{ScarlessHD-DsRed}cherG1789S.STOP.

(Ader et al., 2022)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
3R:17,093,369..17,093,370 [-]
Nucleotide change:

GG17093370TC

Reported nucleotide change:

GG?TC

Amino acid change:

G1789S | cher-PA; G417S | cher-PB; G498S | cher-PF; G1978S | cher-PG; G436S | cher-PH; G1819S | cher-PI; G417S | cher-PK; G2008S | cher-PM; G2156S | cher-PO; G2151S | cher-PP

Reported amino acid change:

G1789S

Comment:

A G1789S amino acid replacement (coordinates of the cher-PA isoform) has been introduced into the endogenous cher locus. Analogous mutation in human FLNC implicated in myopathy, FLNC-related.

(Ader et al., 2022)
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
      DOES NOT model  myopathy
      CEA
      (Ader et al., 2022)
      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.
      (Ader et al., 2022)

      No cardiac functional phenotype is observed; results do not support pathogenicity of the analogous human variant.

      (Ader et al., 2022)
      FLNC:p.Gly2299Ser
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 424003
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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
      cherG1789S
      dFil-Gly
      (Ader et al., 2022)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)