FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\PNPOKI.hPNPO.R116Q
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General Information
Symbol
Hsap\PNPOKI.hPNPO.R116Q
Species
H. sapiens
Name
FlyBase ID
FBal0373270
Feature type
allele
Associated gene
Hsap\PNPO
Associated Insertion(s)
TI{TI}sgllKI.hPNPO.R116Q
Carried in Construct
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Chi et al., 2022)
gene targeting by homologous recombination
(Chi et al., 2022)
Progenitor genotype
Associated Insertion(s)
TI{TI}sgllKI.hPNPO.R116Q
Cytology
Description

The coding sequence of the endogenous sgll-RB isoform has been deleted, and cDNA sequence encoding the orthologous Hsap\PNPO gene has been inserted in its place. The Hsap\PNPO coding sequence contains a G347A nucleotide substitution, corresponding to the R116Q amino acid replacement, a variant associated with epilepsy.

(Chi et al., 2022)
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.
      (Chi et al., 2022)
      PNPO:p.Arg116Gln
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 129981
      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 (1)
      Reported As
      Symbol Synonym
      Hsap\PNPOKI.hPNPO.R116Q
      Name Synonyms
      Secondary FlyBase IDs
        References (2)