FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\cswE76K.UASp
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General Information
Symbol
Dmel\cswE76K.UASp
Species
D. melanogaster
Name
FlyBase ID
FBal0279479
Feature type
allele
Associated gene
Dmel\csw
Associated Insertion(s)
Carried in Construct
P{UASp-csw.E76K}
Also Known As
UAS-cswE76K
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Oishi et al., 2006)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Oishi et al., 2006)
Mutagen
in vitro construct
(Oishi et al., 2006)
Progenitor genotype
Carried in construct
P{UASp-csw.E76K}
Cytology
Description

UASp regulatory sequences drive expression of csw containing the amino acid replacement E76K (this mutation is equivalent to the E76K mutation in the human ortholog Hsap\PTPN11, which is a mutation associated with Leukemia in humans).

(Oishi et al., 2006)
Allele components
Component
Use(s)
Regulatory region(s)
UASp
Encoded product / tool
csw
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:2,095,293..2,095,293 [+]
Nucleotide change:

G2095293A

Amino acid change:

E76K | csw-PA; E129K | csw-PD

Reported amino acid change:

E76K

Comment:

E76K mutation reported relative to isoform csw-PA; analogous mutation in human PTPN11 implicated in juvenile myelomonocytic leukemia; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.

(Oishi et al., 2006)
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  juvenile myelomonocytic leukemia
      CEA
      (Pagani et al., 2009)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      FlyBase curator comment: The mutation in cswE76K.Scer\UAS.P\T is associated with Noonan's syndrome in humans but although it results in various gain of function effects in transgenic flies it's not clear how these relate to the Noonan's syndrome phenotype.

      (Oishi et al., 2006)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Oishi et al., 2006)
      PTPN11:p.Glu76Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: PTPN11_13336
      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
      Partially rescues

      cswE76K.UASp/Scer\GAL4GMR.PU partially rescues cswlf

      (Oishi et al., 2006)
      Comments

      Expression of cswE76K.Scer\UAS.P\T under the control of Scer\GAL4GMR.PU partially rescues the rough eye phenotype of cswlf flies.

      (Oishi et al., 2006)
      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
      cswE76K.Scer\UAS.P\T
      cswE76K.UASp
      Name Synonyms
      Secondary FlyBase IDs
        References (3)