FB2025_01 , released February 20, 2025
Allele: Hsap\SOD1G93C.Sod
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General Information
Symbol
Hsap\SOD1G93C.Sod
Species
H. sapiens
Name
FlyBase ID
FBal0144805
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Transgenic product class
Nature of the Allele
Transgenic product class
Progenitor genotype
Carried in construct
Cytology
Description

The Hsap\SOD1 coding sequence has been mutated (carries the amino acid replacement G93C).

Allele components
Component
Use(s)
Regulatory region(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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.
SOD1:p.Gly94Cys
Variants Synonym(s)
SOD1:p.Gly93Cys
Associated human disease model(s)
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
Suppressor of
Statement
Reference
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

The addition of Hsap\SOD1G93C.Sod (specifically insertion P{dSod-hSod.G93C}2) can suppress the reduced life-span phenotype of SodX-16/SodX-39 flies to effectively wild-type, though other lines do exhibit a variability in their ability to suppress the phenotype.

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 (2)
Reported As
Symbol Synonym
Hsap\SOD1G93C.Sod
Name Synonyms
Secondary FlyBase IDs
    References (2)