WormBase Tree Display for Variation: WBVar00090506

WBVar00090506 Evidence: Paper_evidence: WBPaper00005135
  Name: Public_name: n2520
    Other_name (12)
    HGVSg: CHROMOSOME_IV:g.6743419G>A
  Sequence_details: SMap: S_parent: Sequence: Y73B6A
    Flanking_sequences: gcgacataattcttccaaaattgactcgtt tcaatcagctccgaatgttcttcacttaga
    Mapping_target: Y73B6A
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00005135
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00040571
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00003030
    Transcript: Y73B6A.5c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y73B6A.5c.1:c.2216C>T
        HGVSp: CE24638:p.Ser739Phe
        cDNA_position: 2364
        CDS_position: 2216
        Protein_position: 739
        Exon_number: 13/14
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
      Y73B6A.5e.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y73B6A.5e.1:c.2165C>T
        HGVSp: CE49308:p.Ser722Phe
        cDNA_position: 2225
        CDS_position: 2165
        Protein_position: 722
        Exon_number: 13/14
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
      Y73B6A.5f.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y73B6A.5f.1:c.2129C>T
        HGVSp: CE49394:p.Ser710Phe
        cDNA_position: 2129
        CDS_position: 2129
        Protein_position: 710
        Exon_number: 11/11
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
      Y73B6A.5b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y73B6A.5b.1:c.2387C>T
        HGVSp: CE49395:p.Ser796Phe
        cDNA_position: 2387
        CDS_position: 2387
        Protein_position: 796
        Exon_number: 13/14
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
      Y73B6A.5a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y73B6A.5a.1:c.2261C>T
        HGVSp: CE25585:p.Ser754Phe
        cDNA_position: 2261
        CDS_position: 2261
        Protein_position: 754
        Exon_number: 12/13
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
      Y73B6A.5d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y73B6A.5d.1:c.2336C>T
        HGVSp: CE49237:p.Ser779Phe
        cDNA_position: 2499
        CDS_position: 2336
        Protein_position: 779
        Exon_number: 14/15
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
  Genetics: Interpolated_map_position: IV 3.22424
  Description: Phenotype: WBPhenotype:0000386 Paper_evidence: WBPaper00033433
        Curator_confirmed: WBPerson2987
        Remark: Copper-induced germ cell apoptosis was abolished in lin-45(n2520) mutants (Figure 4). Paper_evidence: WBPaper00033433
            Curator_confirmed: WBPerson2987
        Affected_by: Molecule: WBMol:00002862 Paper_evidence: WBPaper00033433
              Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: Worms were exposed to 10 micromolar of copper for 12 hours Paper_evidence: WBPaper00033433
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00033433
    WBPaper00005135
  Method: Substitution_allele