FB2024_03 , released June 25, 2024
Allele: Dmel\PsnE280A.UAS
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General Information
Symbol
Dmel\PsnE280A.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0101581
Feature type
allele
Associated gene
Dmel\Psn
Associated Insertion(s)
Carried in Construct
P{UAS-Psn.E280A}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Ye and Fortini, 1999)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Ye and Fortini, 1999)
Mutagen
in vitro construct
(Ye and Fortini, 1999)
Progenitor genotype
Psn+14.UAS
(Ye and Fortini, 1999)
Carried in construct
P{UAS-Psn.E280A}
Cytology
Description

Amino acid replacement: E280A.

(Ye and Fortini, 1999)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Psn
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:20,434,003..20,434,003 [+]
Nucleotide change:

A20434003C

Amino acid change:

E302A | Psn-PA; E302A | Psn-PB; E302A | Psn-PC; E302A | Psn-PD; E302A | Psn-PE

Comment:

Analogous E280A mutation in human PSEN1 implicated in Alzheimer's disease 3; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Ye and Fortini, 1999)
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.
      (Ye and Fortini, 1999)
      PSEN1:p.Glu280Ala
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      PSEN1:p.Glu276Ala
      Associated human disease model(s)
      External database links
      ClinVar: PSEN1_18131
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Flies carrying two copies of PsnE280A.Scer\UAS expressed under the control of Scer\GAL4GMR.PF have wild-type eyes. Flies carrying two copies of Psn+14.Scer\UAS expressed under the control of Scer\GAL4GMR.PF have a rough eye phenotype, which is enhanced if the flies are also carrying one copy of PsnE280A.Scer\UAS.

      (Ye and Fortini, 1999)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Enhancer of
      Statement
      Reference

      PsnE280A.UAS, Scer\GAL4bbg-C96 is an enhancer of visible phenotype of Scer\GAL4bbg-C96, mamN.UAS

      (Yedvobnick et al., 2001)
      Phenotype Manifest In
      Enhancer of
      Statement
      Reference

      PsnE280A.UAS, Scer\GAL4bbg-C96 is an enhancer of wing phenotype of Scer\GAL4bbg-C96, mamN.UAS

      (Yedvobnick et al., 2001)
      NOT Enhancer of
      Statement
      Reference

      PsnE280A.UAS/Scer\GAL4GMR.PF is a non-enhancer of phenotype of rprGMR.PH

      (Ye and Fortini, 1999)
      NOT Suppressor of
      Statement
      Reference

      PsnE280A.UAS/Scer\GAL4GMR.PF is a non-suppressor of phenotype of rprGMR.PH

      (Ye and Fortini, 1999)
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      Does not affect the eye phenotype of flies expressing rprGMR.PH when expressed under the control of Scer\GAL4GMR.PF.

      (Ye and Fortini, 1999)
      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 (2)
      Reported As
      Symbol Synonym
      PsnE280A.Scer\UAS
      PsnE280A.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (4)