FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\PRKNR275W.UAS
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General Information
Symbol
Hsap\PRKNR275W.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0287975
Feature type
allele
Associated gene
Hsap\PRKN
Associated Insertion(s)
Carried in Construct
P{UAS-hParkin.R275W}
Key Links
Transgenic product class
missense_variant
(Wang et al., 2007)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Wang et al., 2007)
Mutagen
in vitro construct
(Wang et al., 2007)
Progenitor genotype
Carried in construct
P{UAS-hParkin.R275W}
Cytology
Description

UASt regulates expression of a Hsap\PRKN cDNA containing a R275W mutation.

(Wang et al., 2007)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\PRKN
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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
      (Wang et al., 2007)
      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.
      (Wang et al., 2007)
      PRKN:p.Arg275Trp
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      PRKN:p.Arg126Trp
      PRKN:p.Arg247Trp
      Associated human disease model(s)
      External database links
      ClinVar: PRKN_7050
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Scer\GAL4elav.PU-mediated expression of Hsap\PARK2R275W.Scer\UAS does not compromise the overall anatomical integrity of the adult brain.

      Scer\GAL4Ddc.PL, Hsap\PARK2R275W.Scer\UAS fly brains show an obvious loss of dopaminergic neurons in the PPL1 cluster. This loss is age-dependent and is not seen in other dopaminergic neuronal clusters, including PAL, PPL2, PPM1/2 and PPM3. However, there is a significant reduction of ple-positive neurons in the PAM cluster.

      Scer\GAL4elav.PU, Hsap\PARK2R275W.Scer\UAS fly brains exhibit marked loss of dopaminergic PPL1 neurons but not serotonergic neurons.

      Scer\GAL4Ddc.PL, Hsap\PARK2R275W.Scer\UAS flies show a significant impairment in the ability in their climbing ability at 10 days after eclosion which progressively worsens with age.

      The morphology of surviving PPL1 neurons in Scer\GAL4Ddc.PL, Hsap\PARK2R275W.Scer\UAS flies exposed to rotenone is compromised more than in controls. The number of PPL1 neurons in Scer\GAL4Ddc.PL, Hsap\PARK2R275W.Scer\UAS flies exposed to rotenone is modestly but significantly decreased compared to controls. The climbing ability of Scer\GAL4Ddc.PL, Hsap\PARK2R275W.Scer\UAS flies exposed to rotenone is decreased compared to controls.

      The indirect flight muscles of Scer\GAL4how-24B, Hsap\PARK2R275W.Scer\UAS flies are typified by a significant number of abnormal mitochondria.

      (Wang et al., 2007)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Enhanced by
      Statement
      Reference

      Hsap\PRKNR275W.UAS has abnormal locomotor behavior | adult stage phenotype, enhanceable by park1

      (Wang et al., 2007)
      Enhancer of
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Scer\GAL4Ddc.PL-mediated expression of Hsap\PARK2R275W.Scer\UAS does not affect the reduction in dopaminergic neurons in the PPL1 and PAM clusters seen in 20-day old park1 flies.

      park1 flies that also carry Scer\GAL4Ddc.PL, Hsap\PARK2R275W.Scer\UAS are poorer climbers than either single genotype alone.

      The mitochondrial defects seen in park1 indirect flight muscles persist when Hsap\PARK2R275W.Scer\UAS is expressed using Scer\GAL4how-24B.

      (Wang et al., 2007)
      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
      Hsap\PARK2R275W.Scer\UAS
      Hsap\PRKNR275W.Scer\UAS
      Hsap\PRKNR275W.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (3)