FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\PheRS-mD127Y
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General Information
Symbol
Dmel\PheRS-mD127Y
Species
D. melanogaster
Name
FlyBase ID
FBal0387346
Feature type
allele
Associated gene
Dmel\PheRS-m
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Mo et al., 2023)
Progenitor genotype
Cytology
Description

Amino acid replacement: D127Y.

(Mo et al., 2023)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:13,968,787..13,968,787 [+]
Nucleotide change:

G13968787T

Reported nucleotide change:

G379T

Amino acid change:

D127Y | PheRS-m-PA

Reported amino acid change:

D127Y

Comment:

Analogous D127Y mutation in human FARS2 implicated in developmental delay and seizures, FARS2-related.

(Mo et al., 2023)
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 )
      Disease
      Evidence
      References
      model of  hereditary spastic paraplegia 77
      CEA
      (Mo et al., 2023)
      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.
      (Mo et al., 2023)
      FARS2:p.Asp142Tyr
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 253159
      Comments concerning this variant
      Phenotypic 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
      PheRS-mD127Y
      (Mo et al., 2023)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)