FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Gba1bL444P
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General Information
Symbol
Dmel\Gba1bL444P
Species
D. melanogaster
Name
FlyBase ID
FBal0406099
Feature type
allele
Associated gene
Dmel\Gba1b
Associated Insertion(s)
TI{TI}Gba1bL444P
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Kuppuramalingam et al., 2024)
Progenitor genotype
Associated Insertion(s)
TI{TI}Gba1bL444P
Cytology
Description

The human disease-relevant L444P mutation has been introduced into endogenous Gba1b.

(Kuppuramalingam et al., 2024)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:23,707,007..23,707,007 [+]
Nucleotide change:

T23707007C

Reported nucleotide change:

T?C

Amino acid change:

L515P | Gba1b-PB; L515P | Gba1b-PC

Reported amino acid change:

L494P

Comment:

Analogous mutation in human GBA1 implicated in Gaucher disease. Reported in FBrf0260663 as L494P in Drosophila but the reported sequence change maps to L515P in the R6 reference genome.

(Kuppuramalingam 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  Gaucher's disease
      CEA
      (Kuppuramalingam 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.
      (Kuppuramalingam et al., 2024)
      GBA1:p.Leu483Pro
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      GBA:p.Leu396Pro
      GBA:p.Leu434Pro
      GBA:p.Leu444Pro
      GBA:p.Leu483Pro
      GBA1:p.Leu396Pro
      GBA1:p.Leu434Pro
      GBA1:p.Leu444Pro
      GBA1:p.Leu483Pro
      L444P
      Associated human disease model(s)
      External database links
      ClinVar: GBA_4288
      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 (1)
      Reported As
      Symbol Synonym
      Gba1bL444P
      Name Synonyms
      Secondary FlyBase IDs
        References (2)