FB2024_03 , released June 25, 2024
Allele: Dmel\SERCA14-2
Open Close
General Information
Symbol
Dmel\SERCA14-2
Species
D. melanogaster
Name
FlyBase ID
FBal0301184
Feature type
allele
Associated gene
Dmel\SERCA
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
    Nature of the Allele
    Allele class
    Mutagen
    Progenitor genotype
    Cytology
    Description

    Amino acid replacement: R131H.

    (Kaneko et al., 2014)

    Nucleotide substitution: G392A.

    (Kaneko et al., 2014)

    The amino acid replacement found in the Ca-P60A10-34 mutant is equivalent to the R131Q and R131L mutations in the human ATP2A2 gene which have been implicated in Darier's disease.

    (Kaneko et al., 2014)
    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    point_mutation
    2R:23,932,157..23,932,157 [-]
    Nucleotide change:

    G23932157A

    Reported nucleotide change:

    G392A

    Amino acid change:

    R131H | SERCA-PA; R131H | SERCA-PB; R131H | SERCA-PC; R131H | SERCA-PD; R131H | SERCA-PE; R131H | SERCA-PF; R131H | SERCA-PG; R131H | SERCA-PH; R131H | SERCA-PI

    Reported amino acid change:

    R131H

    (Kaneko et al., 2014)
    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.
        (Kaneko et al., 2014)
        ATP2A2:p.Arg131Gln
        (FlyBase curators, 2019-)
        Variants Synonym(s)
        Associated human disease model(s)
        External database links
        ClinVar: ATP2A2_17800
        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 (3)
        Reported As
        Symbol Synonym
        14-2
        (Kaneko et al., 2014)
        Ca-P60A14-2
        SERCA14-2
        Name Synonyms
        Secondary FlyBase IDs
          References (2)