FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\XpdR601L
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General Information
Symbol
Dmel\XpdR601L
Species
D. melanogaster
Name
FlyBase ID
FBal0302781
Feature type
allele
Associated gene
Dmel\Xpd
Associated Insertion(s)
Carried in Construct
M{Xpd.R601L}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Stettler et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Stettler et al., 2015)
Mutagen
in vitro construct
(Stettler et al., 2015)
Progenitor genotype
Carried in construct
M{Xpd.R601L}
Cytology
Description

Carries amino acid substitution R601L.

(Stettler et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
Xpd
Encoded product / tool
Xpd
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:21,173,570..21,173,570 [+]
Nucleotide change:

G21173570T

Amino acid change:

R601L | Xpd-PA

Reported amino acid change:

R601L

Comment:

Analogous mutation in human ERCC2 implicated in xeroderma pigmentosum, complementation group D; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator based on reported amino acid change.

(Stettler et al., 2015)
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  xeroderma pigmentosum
      CEA with XpdSH2137
      (Stettler et al., 2015)
      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.
      (Stettler et al., 2015)
      ERCC2:p.Arg601Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 2573404
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Compared with wild-type, elevated cell-cycle synchrony defects are detected in transgenic XpdR601L embryos in a XpdSH2137 mutant genetic background.

      (Stettler et al., 2015)
      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
      Partially rescues

      XpdR601L partially rescues XpdSH2137

      (Stettler et al., 2015)
      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
      XpdR601L
      Name Synonyms
      Secondary FlyBase IDs
        References (2)