FB2025_01 , released February 20, 2025
Allele: Hsap\TBC1D24G501R.UAS.GFP
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General Information
Symbol
Hsap\TBC1D24G501R.UAS.GFP
Species
H. sapiens
Name
FlyBase ID
FBal0353560
Feature type
allele
Associated gene
Hsap\TBC1D24
Associated Insertion(s)
Carried in Construct
P{UAS-hTBC1D24.G501R.GFP}
Key Links
Transgenic product class
missense_variant
(Lüthy et al., 2019)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Lüthy et al., 2019)
Mutagen
in vitro construct
(Lüthy et al., 2019)
Progenitor genotype
Carried in construct
P{UAS-hTBC1D24.G501R.GFP}
Cytology
Description

UASt regulatory sequences drive expression of Hsap\TBC1D24 that has been mutated to carry the G501R amino acid substitution, a mutation found in patents with a Rolandic epilepsy exercise-induced dystonia phenotype. The coding sequence is tagged with GFP.

(Lüthy et al., 2019)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\TBC1D24
Tagged with
GFP
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 )
      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.
      (Lüthy et al., 2019)
      TBC1D24:p.Gly501Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      TBC1D24:p.Gly495Arg
      Associated human disease model(s)
      External database links
      ClinVar: TBC1D24_652618
      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 (2)
      Reported As
      Symbol Synonym
      Hsap\TBC1D24G501R.UAS.GFP
      TBC1D24G501R
      (Lüthy et al., 2019)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)