FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\VAPBP56S.UAS
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General Information
Symbol
Hsap\VAPBP56S.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0241350
Feature type
allele
Associated gene
Hsap\VAPB
Associated Insertion(s)
Carried in Construct
P{UAS-Hsap\VAPB.P56S}
Key Links
Transgenic product class
missense_variant
(Chai et al., 2008)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Chai et al., 2008)
Mutagen
in vitro construct
(Chai et al., 2008)
Progenitor genotype
Carried in construct
P{UAS-Hsap\VAPB.P56S}
Cytology
Description

Amino acid replacement: P56S.

(Chai et al., 2008)

UAS regulatory sequences drive expression of mutated Hsap\VAPB coding sequences.

(Chai et al., 2008)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\VAPB
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.
      (Chai et al., 2008)
      VAPB:p.Pro56Ser
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: VAPB_4806
      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
      Suppressor of
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Vap-33-1Δ20 and Vap-33-1Δ448 mutant lethality is rescued through expression of Hsap\VAPBP56S.Scer\UAS under the control of either Scer\GAL4C164 or Scer\GAL4D42. However, the number of boutons is not significantly different in flies expressing Hsap\VAPBP56S.Scer\UAS compared to controls. Moreover, no significant difference in EJPs or quantal sizes is observed in flies expressing Hsap\VAPBP56S.Scer\UAS.

      (Chai et al., 2008)
      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 (2)
      Reported As
      Symbol Synonym
      Hsap\VAPBP56S.Scer\UAS
      Hsap\VAPBP56S.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)