FB2024_02 , released April 23, 2024
Allele: Dmel\upE87K
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General Information
Symbol
Dmel\upE87K
Species
D. melanogaster
Name
FlyBase ID
FBal0362445
Feature type
allele
Associated gene
Dmel\up
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Madan et al., 2020)
Progenitor genotype
Cytology
Description

Amino acid replacement: E87K.

(Madan et al., 2020)

The E87K amino acid substitution is equivalent to a E136K change in the orthologous human TNNT2 gene, a cardiomyopathy-associated variant.

(Madan et al., 2020)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:13,596,582..13,596,582 [-]
Nucleotide change:

G13596582A

Amino acid change:

E87K | up-PA; E79K | up-PB; E64K | up-PE; E87K | up-PG; E64K | up-PH; E87K | up-PI; E79K | up-PJ; E87K | up-PK; E79K | up-PL; E64K | up-PM; E85K | up-PN; E87K | up-PO; E86K | up-PP; E78K | up-PQ; E78K | up-PR; E78K | up-PS

Comment:

Analogous E146K mutation in human TNNT2 implicated in cardiomyopathy.

(Madan et al., 2020)
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.
      (Madan et al., 2020)
      TNNT2:p.Glu146Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      TNNT2:p.Glu106Lys
      TNNT2:p.Glu136Lys
      TNNT2:p.Glu131Lys
      Associated human disease model(s)
      External database links
      ClinVar: 180552
      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
      upE87K
      (Madan et al., 2020)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)