FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Sod1H48R
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General Information
Symbol
Dmel\Sod1H48R
Species
D. melanogaster
Name
FlyBase ID
FBal0343863
Feature type
allele
Associated gene
Dmel\Sod1
Associated Insertion(s)
TI{TI}Sod1H48R
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ends-out gene targeting
(Şahin et al., 2017)
I-CreI
(Şahin et al., 2017)
FLPase
(Şahin et al., 2017)
I-SceI
(Şahin et al., 2017)
Progenitor genotype
Associated Insertion(s)
TI{TI}Sod1H48R
Cytology
Description

Amino acid replacement: H?R.

(Şahin et al., 2017)

The equivalent mutation to the ALS-associated H48R mutation in Hsap\SOD1 has replaced the endogenous gene at the Sod1 locus. (Note names are based on the Hsap\SOD1 amino acid numbering system.) A LoxP "scar" of 72 nt remains. (Note that this allele also contains a natural A1013C polymorphism, which leads to the N98K missense mutation, according to the human amino acid numbering system.)

(Şahin et al., 2017)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:11,112,775..11,112,775 [-]
Nucleotide change:

A11112775G

Amino acid change:

H47R | Sod1-PA

Comment:

Analogous mutation in human SOD1 implicated in ALS; mutation introduced into fly gene by homologous recombination; site of nucleotide substitution in fly gene specified by author. H48 in human SOD1 aligns with H47 in Drosophila ortholog Sod1.

(Şahin et al., 2017)
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 ( 1 )
      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.
      (Şahin et al., 2017)
      SOD1:p.His49Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SOD1:p.His48Arg
      Associated human disease model(s)
      External database links
      ClinVar: 807693
      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
      Sod1H48R
      dsod1H48R
      (Agudelo et al., 2020)
      dsodH48R
      (Şahin et al., 2017)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)