FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\PsnH185R
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General Information
Symbol
Dmel\PsnH185R
Species
D. melanogaster
Name
FlyBase ID
FBal0376066
Feature type
allele
Associated gene
Dmel\Psn
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Restrepo et al., 2022)
Progenitor genotype
Cytology
Description

Amino acid replacement: H185R.

(Restrepo et al., 2022)

The H185R mutation introduced into endogenous Psn corresponds to the human disease related H163R variant.

(Restrepo et al., 2022)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:20,433,527..20,433,527 [+]
Nucleotide change:

A20433527G

Amino acid change:

H185R | Psn-PA; H185R | Psn-PB; H185R | Psn-PC; H185R | Psn-PD; H185R | Psn-PE

Reported amino acid change:

H185R

Comment:

Analogous mutation in human PSEN1 implicated in Alzheimer disease, presenilin-related; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Restrepo et al., 2022)
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 )
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  early-onset Parkinson's disease
      is ameliorated by fz2C.UAS.NLS.Tag:MYC
      (Restrepo et al., 2022)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Restrepo et al., 2022)
      PSEN1:p.His163Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      PSEN1:p.His159Arg
      Associated human disease model(s)
      External database links
      ClinVar: 18124
      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 (2)
      Reported As
      Symbol Synonym
      PsnH185R
      psnH185R
      (Restrepo et al., 2022)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)