FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\paraR-H
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General Information
Symbol
Dmel\paraR-H
Species
D. melanogaster
Name
FlyBase ID
FBal0370725
Feature type
allele
Associated gene
Dmel\para
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Roemmich et al., 2021)
gene targeting by homologous recombination
(Roemmich et al., 2021)
Progenitor genotype
Cytology
Description

A R to H amino acid substitution (CGA to CAT) has been introduced into exon 30 of the endogenous para gene, in the position equivalent to residue 1648 in the orthologous human SCN1A gene. The R1648H change in the human SCN1A gene is a pathogenic variant associated with GEFS+ (generalized epilepsy with febrile seizures plus).

(Roemmich et al., 2021)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
X:16,466,708..16,466,709 [-]
Nucleotide change:

GA16466709AT

Reported nucleotide change:

GA?AT

Amino acid change:

R1726H | para-PA; R1679H | para-PAA; R1681H | para-PAB; R1679H | para-PAC; R1681H | para-PAD; R1703H | para-PAE; R1705H | para-PAF; R1684H | para-PAG; R1702H | para-PAH; R1681H | para-PAI; R1727H | para-PAJ; R1692H | para-PAK; R1706H | para-PAL; R1678H | para-PAM; R1738H | para-PAN; R1708H | para-PAO; R1692H | para-PAP; R1684H | para-PAQ; R1662H | para-PAS; R1651H | para-PAT; R1657H | para-PAW; R1694H | para-PAX; R1727H | para-PAY; R1706H | para-PAZ; R1726H | para-PB; R1727H | para-PBA; R1661H | para-PBB; R1651H | para-PBD; R1726H | para-PBF; R1726H | para-PBG; R1650H | para-PBH; R1726H | para-PC; R1709H | para-PD; R1703H | para-PE; R1703H | para-PF; R1682H | para-PG; R1692H | para-PH; R1674H | para-PI; R1695H | para-PJ; R1671H | para-PK; R1682H | para-PL; R1695H | para-PM; R1695H | para-PN; R1687H | para-PO; R1716H | para-PP; R1671H | para-PQ; R1674H | para-PR; R1695H | para-PS; R1705H | para-PT; R1713H | para-PU; R1692H | para-PV; R1697H | para-PW; R1720H | para-PX; R1733H | para-PY; R1684H | para-PZ

Comment:

Analogous mutation in human SCN1A implicated in epilepsy, SCN-alpha-related; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Roemmich et al., 2021)
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.
      (Roemmich et al., 2021)
      SCN1A:p.Arg1648His
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SCN1A:p.Arg1637His
      SCN1A:p.Arg1620His
      SCN1A:p.Arg834His
      Associated human disease model(s)
      External database links
      ClinVar: 12882
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      paraR-H/+ individuals exhibit spontaneous seizures at 22[o]C, which become more frequent and longer-lasting at higher temperatures.Upon stimulation trains, at 22[o]C local neurons exhibit sustained depolarizations and poststimulus depolarizations in a minority of mutants, but never in controls; at 30[o]C, almost all local neurons exhibit sustained depolarizations and cessation of action potential firing; in some cases, the depolarizations persist after the current step; also, firing frequency is decreased at 30[o]C.

      (Roemmich et al., 2021)
      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 (2)
      Reported As
      Symbol Synonym
      R-H
      (Roemmich et al., 2021)
      paraR-H
      Name Synonyms
      Secondary FlyBase IDs
        References (2)