FB2026_02 , released June 18, 2026
Allele: Dmel\tnR394H.UAS
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General Information
Symbol
Dmel\tnR394H.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0366126
Feature type
allele
Associated gene
Dmel\tn
Associated Insertion(s)
Carried in Construct
P{UAS-tn.R394H}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Bawa et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Bawa et al., 2021)
Mutagen
in vitro construct
(Bawa et al., 2021)
Progenitor genotype
Carried in construct
P{UAS-tn.R394H}
Cytology
Description

UASt regulatory sequences drive expression of tn containing the R394H mutation (this point mutation has been identified in limb-girdle muscular dystrophy type 2H patients).

(Bawa et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
tn
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:19,006,442..19,006,442 [+]
Nucleotide change:

G19006442A

Reported nucleotide change:

CGC>CAC

Amino acid change:

R1114H | tn-PA; R1114H | tn-PB; R1278H | tn-PC; R1009H | tn-PD; R1038H | tn-PE

Comment:

Analogous R394H mutation in human TRIM32 implicated in muscular distrophy; mutation carried on in vitro construct.

(Bawa et al., 2021)
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.
      (Bawa et al., 2021)
      TRIM32:p.Arg394His
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 7353
      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 (1)
      Reported As
      Symbol Synonym
      tnR394H.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)