FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Allele: Dmel\sxcN595K-19.1
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General Information
Symbol
Dmel\sxcN595K-19.1
Species
D. melanogaster
Name
FlyBase ID
FBal0352246
Feature type
allele
Associated gene
Dmel\sxc
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Pravata et al., 2019)
gene targeting by homologous recombination
(Pravata et al., 2019)
Progenitor genotype
Cytology
Description

Amino acid replacement: N595K.

(Pravata et al., 2019)

Mutation is equivalent to the N567K mutation identified in the human OGT ortholog in monozygotic female twins with intellectual disability.

(Pravata et al., 2019)
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 ( 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.
      (Pravata et al., 2019)
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      sxcN595K-19.1 individuals develop to adulthood without apparent homeotic defects.

      (Pravata et al., 2019)
      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 (2)
      Reported As
      Symbol Synonym
      sxcN595K-19.1
      (Pravata et al., 2019)
      sxcN595K
      (Czajewski et al., 2024)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)