FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\PINK1Pink1.P399L
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General Information
Symbol
Hsap\PINK1Pink1.P399L
Species
H. sapiens
Name
FlyBase ID
FBal0408897
Feature type
allele
Associated gene
Hsap\PINK1
Associated Insertion(s)
TI{TI}Pink1hPINK1.P399L
Carried in Construct
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
phiC31 integrase
(Pech et al., 2025)
Progenitor genotype
TI{TI}Pink1KO
(Pech et al., 2025)
Associated Insertion(s)
TI{TI}Pink1hPINK1.P399L
Cytology
Description

The RMCE cassette present in TI{TI}Pink1KO has been has been replaced by cDNA sequence (followed by a polyA tail) encoding mutant Hsap\PINK1 carrying the pathogenic P399L variant, resulting in a locus in which the Hsap\PINK1 coding sequence is expressed under the control of endogenous Pink1 regulatory sequences.

(Pech et al., 2025)
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.
      (Pech et al., 2025)

      See also Pink1hPINK1.L347P.

      (FlyBase curators, 2019-)
      PINK1:p.Pro399Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 2417
      Comments concerning this variant
      Phenotypic 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
      Partially rescued by

      Hsap\PINK1Pink1.P399L is partially rescued by Scer\GAL4GH146/Hsap\PINK1UAS.cYa

      (Pech et al., 2025)
      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
      Hsap\PINK1Pink1.P399L
      Name Synonyms
      Secondary FlyBase IDs
        References (2)