FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Allele: Hsap\SMS443.UAS.Tag:FLAG
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General Information
Symbol
Hsap\SMS443.UAS.Tag:FLAG
Species
H. sapiens
Name
FlyBase ID
FBal0337817
Feature type
allele
Associated gene
Hsap\SMS
Associated Insertion(s)
Carried in Construct
P{UAS-hSms.443}
Key Links
Transgenic product class
missense_variant
(Li et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Li et al., 2017)
Mutagen
in vitro construct
(Li et al., 2017)
Progenitor genotype
Carried in construct
P{UAS-hSms.443}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\SMS carrying the c.443A>G (p.Gln148Arg) mutation that has been reported in individuals with Snyder-Robinson syndrome. The protein is tagged at the N-terminal end with Tag:FLAG.

(Li et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\SMS
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.
      (Li et al., 2017)
      SMS:p.Gln148Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SMS:p.Gln95Arg
      Associated human disease model(s)
      External database links
      ClinVar: SMS_65679
      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

      The expression of Hsap\SMS443.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4Act.PU partially rescues the locomotor activity defects of both male and female Smse00382 homozygous adults, as well as the decreased longevity defects of male, but not female, Smse00382 homozygous adults, but does not significantly ameliorate their partial lethality.

      (Li et al., 2017)
      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\SMS443.Scer\UAS.T:Zzzz\FLAG
      Hsap\SMS443.UAS.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (2)