FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\ARQ65.S210D.S790D.UAS.Tag:NLS(SV40-largeT)
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General Information
Symbol
Hsap\ARQ65.S210D.S790D.UAS.Tag:NLS(SV40-largeT)
Species
H. sapiens
Name
FlyBase ID
FBal0247980
Feature type
allele
Associated gene
Hsap\AR
Associated Insertion(s)
Carried in Construct
P{UAS-NLS-Hsap/AR.Q65.S210D.S790D}
Key Links
Transgenic product class
missense_variant
(Nedelsky et al., 2010)
polypeptide_post_translational_processing_variant
(Nedelsky et al., 2010)
trinucleotide_repeat_expansion
(Nedelsky et al., 2010)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Nedelsky et al., 2010)
polypeptide_post_translational_processing_variant
(Nedelsky et al., 2010)
trinucleotide_repeat_expansion
(Nedelsky et al., 2010)
Mutagen
in vitro construct
(Nedelsky et al., 2010)
Progenitor genotype
Carried in construct
P{UAS-NLS-Hsap/AR.Q65.S210D.S790D}
Cytology
Description

Amino acid replacement: S210D.

(Nedelsky et al., 2010)

Amino acid replacement: S790D.

(Nedelsky et al., 2010)

UASt regulatory sequences drive expression of Hsap\AR coding sequences carrying a polyglutamine-tract of 65 residues and two phosphomimetic substitutions that prevent dihydrotestosterone binding to Hsap\AR, tagged at the N-terminus with Tag:NLS(SV40-largeT).

(Nedelsky et al., 2010)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\AR
Tagged with
Tag:NLS(SV40-largeT)
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 ( 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.
      (Nedelsky et al., 2010)
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\ARQ65.S210D.S790D.Scer\UAS.T:Zzzz\nls1 in the developing eye under the control of Scer\GAL4GMR.PF does not cause toxicity in the absence of dihydrotestosterone, indicating that nuclear translocation of Hsap\ARQ65.S210D.S790D.Scer\UAS.T:Zzzz\nls1 is not sufficient for toxicity. However, upon exposure to dihydrotestosterone, these mutants develop the characteristic SBMA eye phenotype.

      (Nedelsky et al., 2010)
      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 (4)
      Reported As
      Symbol Synonym
      Hsap\ARQ65.S210D.S790D.Scer\UAS.T:SV40\nls-largeT
      Hsap\ARQ65.S210D.S790D.Scer\UAS.T:Zzzz\nls-KKKRKV
      Hsap\ARQ65.S210D.S790D.Scer\UAS.T:Zzzz\nls1
      Hsap\ARQ65.S210D.S790D.UAS.Tag:NLS(SV40-largeT)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)