FB2025_05 , released December 11, 2025
Allele: Dmel\SmnL207Y,G210C.Tag:FLAG
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General Information
Symbol
Dmel\SmnL207Y,G210C.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0370992
Feature type
allele
Associated gene
Dmel\Smn
Associated Insertion(s)
Carried in Construct
M{FLAG-Smn.L207Y,G210C}
Key Links
Transgenic product class
missense_variant
(Gupta et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Gupta et al., 2021)
Mutagen
in vitro construct
(Gupta et al., 2021)
Progenitor genotype
Carried in construct
M{FLAG-Smn.L207Y,G210C}
Cytology
Description

A 3kb genomic fragment containing the entire Smn coding region, in which the coding sequence has been mutated to carry L207Y and G210C amino acid substitutions (G210C is SMA-causing in humans). The coding sequence is tagged at the N-terminal end with three copies of Tag:FLAG.

(Gupta et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
Smn
Encoded product / tool
Smn
Tagged with
Tag:FLAG
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.
      (Gupta et al., 2021)
      SMN1:p.Gly279Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SMN1:p.Gly247Cys
      Associated human disease model(s)
      External database links
      UniProtKB/Swiss-Prot variant: SMN1_VAR_007990
      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
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      SmnL207Y,G210C.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (2)