FB2024_03 , released June 25, 2024
Allele: Dmel\Sas-4TCP-1
Open Close
General Information
Symbol
Dmel\Sas-4TCP-1
Species
D. melanogaster
Name
FlyBase ID
FBal0386576
Feature type
allele
Associated gene
Dmel\Sas-4
Associated Insertion(s)
Carried in Construct
P{Sas-4.TCP-1}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Zheng et al., 2014)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Zheng et al., 2014)
Mutagen
in vitro construct
(Zheng et al., 2014)
Progenitor genotype
Carried in construct
P{Sas-4.TCP-1}
Cytology
Description

The Sas-4 promoter drives expression of Sas-4 carrying a E792V amino acid replacement. This change is equivalent to a change associated with autosomal recessive primary microcephaly (MCPH) in the orthologous human gene.

(Zheng et al., 2014)
Allele components
Component
Use(s)
Regulatory region(s)
Sas-4
Encoded product / tool
Sas-4
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:7,153,833..7,153,833 [+]
Nucleotide change:

A7153833T

Amino acid change:

E792V | Sas-4-PA

Reported amino acid change:

E792V

Comment:

Analogous E1235V mutation in human CPAP implicated in microcephaly 6, primary, autosomal recessive; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Zheng et al., 2014)
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 ( 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.
      (Zheng et al., 2014)
      CENPJ:p.Glu1235Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 1818
      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 (1)
      Reported As
      Symbol Synonym
      Sas-4TCP-1
      Name Synonyms
      Secondary FlyBase IDs
        References (2)