FB2026_03 , released September 17, 2026
Allele: Dmel\RyRL4971I
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General Information
Symbol
Dmel\RyRL4971I
Species
D. melanogaster
Name
FlyBase ID
FBal0414272
Feature type
allele
Associated gene
Dmel\RyR
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Zmojdzian et al., 2026)
gene targeting by homologous recombination
(Zmojdzian et al., 2026)
Progenitor genotype
Cytology
Description

Amino acid replacement L4971I. This change is equivalent to a M4881I change in the orthologous human RYR1 gene, a variant of unknown significance identified in a patent with congenital myopathy with a delayed acquisition of motor function.

(Zmojdzian et al., 2026)
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 ( 0 )
      Disease
      Evidence
      References
      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.
      (Zmojdzian et al., 2026)
      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
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      RyRL4971I
      Name Synonyms
      Secondary FlyBase IDs
        References (1)