FB2024_03 , released June 25, 2024
Allele: Dmel\TyrRSE195K.UAS
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General Information
Symbol
Dmel\TyrRSE195K.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0230483
Feature type
allele
Associated gene
Dmel\TyrRS
Associated Insertion(s)
Carried in Construct
P{UAS-TyrRS.E195K}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Storkebaum et al., 2009)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Storkebaum et al., 2009)
Mutagen
in vitro construct
(Storkebaum et al., 2009)
Progenitor genotype
Carried in construct
P{UAS-TyrRS.E195K}
Cytology
Description

UAS regulatory sequences drive expression of a mutant form of TyrRS containing an E195K mutation.

(Storkebaum et al., 2009)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
TyrRS
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:16,418,661..16,418,661 [-]
Nucleotide change:

G16418661A

Amino acid change:

E195K | TyrRS-PA

Reported amino acid change:

E195K

Comment:

Analogous E196K mutation in human YARS1 implicated in Charcot-Marie-Tooth disease dominant intermediate C; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Storkebaum et al., 2009)
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  Charcot-Marie-Tooth disease
      CEA
      (Leitao-Goncalves et al., 2012)
      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.
      (Storkebaum et al., 2009)
      YARS1:p.Glu196Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: YARS1_6189
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Neuronal expression of Aats-tyrE196K.Scer\UAS usint Scer\GAL4n-syb.PS induces a significant climbing deficit compared with controls.

      Ubiquitous expression of Aats-tyrE196K.Scer\UAS under the control of Scer\GAL4Act5C.PI induces significant lethality.

      (Leitao-Goncalves et al., 2012)

      Expression of one copy of Aats-tyrE195K.Scer\UAS under the control of Scer\GAL4Act5C.PU results in either partial or complete lethality depending on the strength of the driver line.

      (Storkebaum et al., 2009)
      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 (4)
      Reported As
      Symbol Synonym
      Aats-tyrE195K.Scer\UAS
      Aats-tyrE196K.Scer\UAS
      TyrRSE195K.Scer\UAS
      TyrRSE195K.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (5)