FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\ScampG302W.UAS
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General Information
Symbol
Dmel\ScampG302W.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0362371
Feature type
allele
Associated gene
Dmel\Scamp
Associated Insertion(s)
Carried in Construct
M{UAS-Scamp.G302W}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Hubert et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Hubert et al., 2020)
Mutagen
in vitro construct
(Hubert et al., 2020)
Progenitor genotype
Carried in construct
M{UAS-Scamp.G302W}
Cytology
Description

UAS regulatory sequences drive expression of a mutated form of Scamp that carries a G302W amino acid substitution. This change is equivalent to a p.Gly180Trp change in the orthologous human SCAMP5 gene, a variant identified in patients with a neurodevelopmental disorder.

(Hubert et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Scamp
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:15,447,550..15,447,550 [-]
Nucleotide change:

G15447550T

Reported nucleotide change:

G>T

Amino acid change:

G302W | Scamp-PA; G302W | Scamp-PC

Reported amino acid change:

G302W

Comment:

Analogous G180W mutation in human SCAMP5 implicated in autism spectrum disorder; mutation carried on in vitro construct.

(Hubert et al., 2020)
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  autism spectrum disorder
      CEA
      (Hubert et al., 2020)
      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.
      (Hubert et al., 2020)
      SCAMP5:p.Gly180Trp
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 872248
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing ScampG302W.UAS under the control of Scer\GAL4ey.PU induces a small and mild rough eye phenotype. Expression under the control of Scer\GAL4elav.PU leads to a decrease in adult climbing activity,

      (Hubert et al., 2020)
      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
      SCAMPG302W
      (Hubert et al., 2020)
      ScampG302W.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)