FB2024_02 , released April 23, 2024
Allele: Dmel\parkT433N.UAS.Tag:MYC
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General Information
Symbol
Dmel\parkT433N.UAS.Tag:MYC
Species
D. melanogaster
Name
FlyBase ID
FBal0359495
Feature type
allele
Associated gene
Dmel\park
Associated Insertion(s)
Carried in Construct
P{UAS-park.T433N.Myc}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Ham et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Ham et al., 2020)
Mutagen
in vitro construct - regulatory fusion
(Ham et al., 2020)
in vitro construct - coding region fusion
(Ham et al., 2020)
in vitro construct - amino acid replacement
(Ham et al., 2020)
Progenitor genotype
Carried in construct
P{UAS-park.T433N.Myc}
Cytology
Description

UASt regulatory sequences drive expression of park that carries a T433N amino acid replacement. This change is equivalent to a T415N change in the human Parkin gene, a variant identified in patients with Parkinson disease. The coding sequence is tagged with Tag:MYC.

(Ham et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
park
Tagged with
Tag:MYC
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:21,195,074..21,195,075 [-]
Nucleotide change:

CA21195075AC

Amino acid change:

T433N | park-PB; T433N | park-PC

Reported amino acid change:

T433N

Comment:

Analogous T415N mutation in human PRKN implicated in Parkinson's disease 2; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Ham 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  Parkinson's disease 2
      CEA
      (Ham 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.
      (Ham et al., 2020)
      PRKN:p.Thr415Asn
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      PRKN:p.Thr387Asn
      PRKN:p.Thr266Asn
      Associated human disease model(s)
      External database links
      ClinVar: 586380
      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
      parkT433N.UAS.Tag:MYC
      Name Synonyms
      Secondary FlyBase IDs
        References (2)