FB2025_01 , released February 20, 2025
Allele: Dmel\fryF2746S.RMCE
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General Information
Symbol
Dmel\fryF2746S.RMCE
Species
D. melanogaster
Name
FlyBase ID
FBal0400884
Feature type
allele
Associated gene
Dmel\fry
Associated Insertion(s)
TI{TI}fryF2746S.RMCE
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
phiC31 integrase
(Pan et al., 2024)
I-CreI
(Pan et al., 2024)
Progenitor genotype
Associated Insertion(s)
TI{TI}fryF2746S.RMCE
Cytology
Description

Amino acid replacement: F2746S.

(Pan et al., 2024)

The F2746S change is equivalent to a F2295S 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. An attL site is also present in an intron as a result of the mutagenesis strategy.

(Pan et al., 2024)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:9,635,135..9,635,135 [-]
Nucleotide change:

T9635135C

Amino acid change:

F2746S | fry-PB; F2794S | fry-PC; F2789S | fry-PE; F2746S | fry-PF; F2794S | fry-PG; F2741S | fry-PH; F2794S | fry-PI; F2746S | fry-PJ

Reported amino acid change:

F2746S

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 ( 1 )
      Disease
      Evidence
      References
      model of  syndromic intellectual disability
      CEA with fryMI12326-TG4.1
      (Pan 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.
      (Pan et al., 2024)
      FRYL:p.Phe2295Ser
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic 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
      fryF2746S.RMCE
      fryp.Phe2746Ser_RMCE
      (Pan et al., 2024)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)