FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Dsor1Y149C
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General Information
Symbol
Dmel\Dsor1Y149C
Species
D. melanogaster
Name
FlyBase ID
FBal0389308
Feature type
allele
Associated gene
Dmel\Dsor1
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Marmion et al., 2023)
gene targeting by homologous recombination
(Marmion et al., 2023)
Progenitor genotype
Cytology
Description

Missense mutation equivalent to a Y130C change in the orthologous human MAP2K1 gene, a variant identified by studies of cardiofaciocutaneous syndrome (CFCS). The chromosome also carries a protospacer motif (PAM) mutation in an intron (introduced to prevent repeated cleavage following homology directed repair).

(Marmion et al., 2023)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:9,248,877..9,248,877 [+]
Nucleotide change:

A9248877G

Reported nucleotide change:

A?G

Amino acid change:

Y149C | Dsor1-PA; Y146C | Dsor1-PB

Reported amino acid change:

Y149C

Comment:

Analogous mutation in human MAP2K1 implicated in cardiofaciocutaneous syndrome 3.

(Marmion et al., 2023)
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  RASopathy
      CEA
      (Marmion et al., 2023)
      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.
      (Marmion et al., 2023)
      MAP2K1:p.Tyr130Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: MAP2K1_13351
      Comments concerning this variant
      MAP2K2:p.Tyr134Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 177868
      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 (2)
      Reported As
      Symbol Synonym
      Dsor1Y149C
      mekY130C
      (Marmion et al., 2023)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)