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General Information
Symbol
Dmel\InRK414P.GMR
Species
D. melanogaster
Name
FlyBase ID
FBal0156358
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

AA21579145CC

Amino acid change:

K414P | InR-PA; K414P | InR-PB; K414P | InR-PC; K414P | InR-PD

Reported amino acid change:

K414P

Comment:

Analogous R113P mutation in human INSR implicated in Donohue syndrome; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

GMR regulatory sequences drive expression of InR that carries an K418P amino acid replacement (numbering using GenBank submission gb|AAC47458). This change corresponds to K414P in the current release of the Drosophila genome (release 6). The change is meant to mimic the R113P change in Longo et al., 1993 (PMID:8419945) (R113P is called R86P in the paper). (Revision of data in FBrf0178856, where it was incorrectly annotated as carrying a R418P change).

Allele components
Product class / Tool use(s)
Encoded product / tool
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)
 
INSR:p.Arg113Pro
Variants Synonym(s)
INSR:p.Arg86Pro
External database links
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 (2)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
InRK414P.GMR
InRR418P.GMR
Name Synonyms
Secondary FlyBase IDs
    References (3)