FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Ykt6Y65C.GR
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General Information
Symbol
Dmel\Ykt6Y65C.GR
Species
D. melanogaster
Name
FlyBase ID
FBal0405565
Feature type
allele
Associated gene
Dmel\Ykt6
Associated Insertion(s)
Carried in Construct
PBac{Ykt6.GR.Y65C}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Ma et al., 2024)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Ma et al., 2024)
Mutagen
in vitro construct
(Ma et al., 2024)
Progenitor genotype
Carried in construct
PBac{Ykt6.GR.Y65C}
Cytology
Description

Approximately 5.2kb genomic fragment that encompasses Ykt6. A Y65C amino acid replacement has been introduced into the coding region. This change is equivalent to a Y64C change in the orthologous human YKT6 gene, a variant identified in a patient with neurodevelopmental disorders and optic atrophy.

(Ma et al., 2024)
Allele components
Component
Use(s)
Regulatory region(s)
Ykt6
Encoded product / tool
Ykt6
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:7,920,958..7,920,958 [+]
Nucleotide change:

A7920958G

Reported nucleotide change:

A191G

Amino acid change:

Y65C | Ykt6-PA

Reported amino acid change:

Y65C

Comment:

Analogous mutation in human YKT6 identified in a patient with neurodevelopmental disorders and optic atrophy; mutation carried on in vitro construct.

(Ma et al., 2024)
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  syndromic intellectual disability
      CEA
      (Ma et al., 2024)
      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.
      (Ma et al., 2024)
      YKT6:p.Tyr64Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 2225724
      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
      Rescues

      Ykt6Y65C.GR rescues Ykt6L162Q

      (Ma et al., 2024)
      Partially rescues

      Ykt6Y65C.GR partially rescues Ykt6G808

      (Ma et al., 2024)
      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
      Ykt6Y65C.GR
      dYkt6GR-Y65C
      (Ma et al., 2024)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)