FB2026_02 , released June 18, 2026
Allele: Dmel\NagluW422X
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General Information
Symbol
Dmel\NagluW422X
Species
D. melanogaster
Name
FlyBase ID
FBal0408256
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

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

A W422term amino acid change has been introduced into endogenous Naglu, equivalent to a W404term change in Hsap\NAGLU (associated with Mucopolysaccharidosis IIIB disorder).

A W422term amino acid change has been introduced into the endogenous CG13397 locus. This change is equivalent to a W404term change in the orthologous human NAGLU gene, a variant that is associated with Mucopolysaccharidosis III B (Sanfilippo syndrome B).

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

G8410201A

Amino acid change:

W422term | Naglu-PA; W422term | Naglu-PB

Reported amino acid change:

W422term

Comment:

A W422term amino acid change has been introduced into the endogenous CG13397 locus. This change is equivalent to a W404term change in the orthologous human NAGLU gene, a variant that is associated with Mucopolysaccharidosis III B (Sanfilippo syndrome B). G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation (exact site of mutation unspecified). Site of nucleotide substitution in mutant inferred by FlyBase curator based on reported amino acid change.

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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
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.
NAGLU:p.Trp404Ter
Variants Synonym(s)
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Interactions
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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 (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
Reported As
Symbol Synonym
NagluW422X.S
Name Synonyms
Secondary FlyBase IDs
  • FBal0407856
  • FBal0351693
References (4)