FB2024_03 , released June 25, 2024
Allele: Dmel\mAcon1A259T
Open Close
General Information
Symbol
Dmel\mAcon1A259T
Species
D. melanogaster
Name
FlyBase ID
FBal0397474
Feature type
allele
Associated gene
Dmel\mAcon1
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Zhu et al., 2023)
gene targeting by homologous recombination
(Zhu et al., 2023)
Progenitor genotype
Cytology
Description

Amino acid replacement: A259T.

(Zhu et al., 2023)

The A259T amino acid substitution is equivalent to an A252T change in the orthologous human ACO2 gene, a variant identified in patients with Parkinson disease.

(Zhu et al., 2023)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:21,170,932..21,170,932 [+]
Nucleotide change:

G21170932A

Reported nucleotide change:

G?A

Amino acid change:

A259T | mAcon1-PB; A259T | mAcon1-PD; A259T | mAcon1-PE; A259T | mAcon1-PF

Reported amino acid change:

A259T

Comment:

Analogous mutation in human ACO2 implicated in Parkinson disease.

(Zhu et al., 2023)
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  Parkinson's disease
      CEA
      (Zhu et al., 2023)
      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.
      (Zhu et al., 2023)
      ACO2:p.Ala252Thr
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
        External database links
        Comments concerning this variant

        Disease model in flies has not been developed.

        (FlyBase curators, 2019-)
        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
        AconA259T
        (Zhu et al., 2023)
        mAcon1A259T
        Name Synonyms
        Secondary FlyBase IDs
          References (2)