FB2025_01 , released February 20, 2025
Allele: Dmel\fryF2024L.PE
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General Information
Symbol
Dmel\fryF2024L.PE
Species
D. melanogaster
Name
FlyBase ID
FBal0400881
Feature type
allele
Associated gene
Dmel\fry
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
    Nature of the Allele
    Allele class
    Mutagen
    Progenitor genotype
    Cytology
    Description

    Amino acid replacement: F2024L.

    (Pan et al., 2024)

    The F2024L change is equivalent to a F1628L change in the orthologous human FRYL gene, a variant identified in patients with developmental delay, intellectual disability, dysmorphic features, and other congenital anomalies in multiple systems.

    (Pan et al., 2024)
    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    point_mutation
    3L:9,637,736..9,637,736 [-]
    Nucleotide change:

    T9637736C

    Amino acid change:

    F2024L | fry-PB; F2072L | fry-PC; F2067L | fry-PE; F2024L | fry-PF; F2072L | fry-PG; F2019L | fry-PH; F2072L | fry-PI; F2024L | fry-PJ

    Reported amino acid change:

    F2024L

    Comment:

    Analogous mutation in human FRYL implicated in neurodevelopmental disorder with dysmorphic features, FRYL-related; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

    (Pan 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 ( 0 )
        Disease
        Evidence
        References
        Modifiers Based on Experimental Evidence ( 1 )
        Disease
        Interaction
        References
        ameliorates  syndromic intellectual disability
        modeled by fryMI12326-TG4.1
        (Pan et al., 2024)
        Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
         
        Disease-implicated variant(s)
         
        This allele represents a human variant implicated in disease.
        (Pan et al., 2024)
        FRYL:p.Phe1628Leu
        (FlyBase curators, 2019-)
        Variants Synonym(s)
        Associated human disease model(s)
        External database links
        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
        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
        fryF2024L.PE
        fryp.Phe2024Leu_PE
        (Pan et al., 2024)
        Name Synonyms
        Secondary FlyBase IDs
          References (2)