FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\ATPsynCN102K.UAS
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General Information
Symbol
Dmel\ATPsynCN102K.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0373159
Feature type
allele
Associated gene
Dmel\ATPsynC
Associated Insertion(s)
Carried in Construct
M{UAS-ATPsynC.N102K}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Neilson et al., 2022)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Neilson et al., 2022)
Mutagen
in vitro construct
(Neilson et al., 2022)
Progenitor genotype
Carried in construct
M{UAS-ATPsynC.N102K}
Cytology
Description

UASt regulates expression of ATPsynC bearing a p.N102K mutation, equivalent to the Asn106Lys mutation in the human ortholog (ATP5MC3) associated with autosomal dominant spastic paraplegia and dystonia.

(Neilson et al., 2022)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
ATPsynC
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:31,217,125..31,217,125 [-]
Nucleotide change:

C31217125G

Reported nucleotide change:

C?G

Amino acid change:

N102K | ATPsynC-PA; N102K | ATPsynC-PB; N102K | ATPsynC-PC; N102K | ATPsynC-PE; N102K | ATPsynC-PG

Reported amino acid change:

N102K

Comment:

Analogous mutation in human ATP5MC3 implicated in autosomal dominant spastic paraplegia and dystonia; mutation carried on in vitro construct.

(Neilson 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
      model of  early-onset dystonia and/or spastic paraplegia
      CEA
      (Neilson 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.
      (Neilson et al., 2022)
      ATP5MC3:p.Asn106Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 976731
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of ATPsynCN102K.UAS/ATPsynCN102K.UAS under the control of Scer\GAL4arm.PU induces reduced mobility in adults.

      (Neilson et al., 2022)
      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
      ATPsynCN102K.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)