FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\AtpαD580F
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General Information
Symbol
Dmel\AtpαD580F
Species
D. melanogaster
Name
FlyBase ID
FBal0402342
Feature type
allele
Associated gene
Dmel\Atpα
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

hypermorphic allele - molecular evidence

Mutagen
Nature of the Allele
Allele class

hypermorphic allele - molecular evidence

(Yuan et al., 2025)
Mutagen
CRISPR/Cas9
(Yuan et al., 2025)
gene targeting by homologous recombination
(Yuan et al., 2025)
Progenitor genotype
Cytology
Description

Amino acid replacement: D580F.

(Yuan et al., 2025)

The D580F change is equivalent to a D601F change in the orthologous human ATP1A1 gene, a variant associated with Charcot-Marie-Tooth disease type 2.

(Yuan et al., 2025)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
3R:20,965,608..20,965,609 [+]
Nucleotide change:

GA20965608TT

Amino acid change:

D619F | Atpalpha-PA; D580F | Atpalpha-PB; D580F | Atpalpha-PC; D580F | Atpalpha-PD; D580F | Atpalpha-PE; D580F | Atpalpha-PF; D580F | Atpalpha-PG; D580F | Atpalpha-PH; D580F | Atpalpha-PI; D580F | Atpalpha-PJ; D580F | Atpalpha-PK

Reported amino acid change:

D580F

Comment:

Analogous mutation in human ATP1A1 implicated in Charcot-Marie-Tooth disease type 2; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Yuan et al., 2025)
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  Charcot-Marie-Tooth disease type 2DD
      CEA
      (Yuan et al., 2025)
      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.
      (Yuan et al., 2025)
      ATP1A1:p.Asp601Phe
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ATP1A1:p.Asp570Phe
      Associated human disease model(s)
      External database links
      ClinVar: 2571505
      Comments concerning this variant
      Phenotypic 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
      Asp580Phe
      (Chen et al., 2026)
      AtpαD580F
      (Yuan et al., 2025)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)