FB2026_02 , released June 18, 2026
Allele: Dmel\mtDNA-helicaseW441C.UAS
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General Information
Symbol
Dmel\mtDNA-helicaseW441C.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0279447
Feature type
allele
Associated gene
Dmel\mtDNA-helicase
Associated Insertion(s)
Carried in Construct
P{UAS-mtDNA-helicase.W441C}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Sanchez-Martinez et al., 2012)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Sanchez-Martinez et al., 2012)
Mutagen
in vitro construct
(Sanchez-Martinez et al., 2012)
Progenitor genotype
Carried in construct
P{UAS-mtDNA-helicase.W441C}
Cytology
Description

UAS regulatory sequences drive expression of a mutated form of mtDNA-helicase which contains the amino acid replacement W441C.

(Sanchez-Martinez et al., 2012)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
mtDNA-helicase
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:9,891,870..9,891,870 [-]
Nucleotide change:

G9891870T

Amino acid change:

W441C | mtDNA-helicase-PA

Reported amino acid change:

W441C

Comment:

Analogous W474C mutation in human TWNK implicated in Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Sanchez-Martinez et al., 2012)
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 )
      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.
      (Sanchez-Martinez et al., 2012)
      TWNK:p.Trp474Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      TWNK:p.Trp20Cys
      Associated human disease model(s)
      External database links
      UniProtKB/Swiss-Prot variant: TWNK_VAR_023661
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of mtDNA-helicaseW441C.Scer\UAS under the control of Scer\GAL4da.G32 results in a significant decrease in mtDNA copy number in third instar larvae, while mtDNA copy number is normal in adults.

      Animals expressing mtDNA-helicaseW441C.Scer\UAS under the control of Scer\GAL4da.G32 show a slight decrease in longevity compared to animals expressing mtDNA-helicaseScer\UAS.cSa under the control of Scer\GAL4da.G32.

      Apoptosis and cell proliferation in wing discs of third instar larvae expressing mtDNA-helicaseW441C.Scer\UAS under the control of Scer\GAL4da.G32 is similar to that of controls.

      (Sanchez-Martinez et al., 2012)
      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
      mtDNA-helicaseW441C.Scer\UAS
      mtDNA-helicaseW441C.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)