FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\ATP6AP2L98S.UAS
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General Information
Symbol
Dmel\ATP6AP2L98S.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0336771
Feature type
allele
Associated gene
Dmel\ATP6AP2
Associated Insertion(s)
Carried in Construct
M{UAS-ATP6AP2.L98S}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Rujano et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Rujano et al., 2017)
Mutagen
in vitro construct
(Rujano et al., 2017)
Progenitor genotype
Carried in construct
M{UAS-ATP6AP2.L98S}
Cytology
Description

ATP6AP2 bearing a Leu98Ser substitution in the extracellular domain, which is associated with a glycosylation disorder in the human ortholog, is expressed under the control of UAS. (Mutagenesis was done on the pUASg-HAattB plasmid containing the coding sequence of ATP6AP2 optimised by GeneArt (Invitrogen) with a final stop codon that impedes the expression of the HA tag.)

(Rujano et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
ATP6AP2
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:9,261,239..9,261,240 [+]
Nucleotide change:

CT9261239TC

Amino acid change:

L98S | ATP6AP2-PA

Reported amino acid change:

L98S

Comment:

Analogous L98S mutation in human ATP6AP2 implicated in congenital disorder of glycosylation (postulated), ATP6AP2-related; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Rujano et al., 2017)
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 ( 0 )
      Disease
      Evidence
      References
      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.
      (Rujano et al., 2017)
      ATP6AP2:p.Leu98Ser
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      UniProtKB/Swiss-Prot variant: ATP6AP2_VAR_082053
      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 (3)
      Reported As
      Symbol Synonym
      ATP6AP2L98S.Scer\UAS
      ATP6AP2L98S.UAS
      VhaM8.9L98S.Scer\UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)