WormBase Tree Display for Variation: WBVar00275501

WBVar00275501 Evidence: Paper_evidence: WBPaper00030735
  Name: Public_name: zu169
    Other_name: CE27591:p.Gln548Ter
      CE31238:p.Gln235Ter
      T19E7.2b.1:c.703C>T
      T19E7.2d.1:c.442C>T
      T19E7.2a.1:c.1642C>T
      CE31239:p.Gln458Ter
      CE49174:p.Gln148Ter
      T19E7.2c.1:c.1372C>T
    HGVSg: CHROMOSOME_IV:g.5652046G>A
  Sequence_details: SMap: S_parent: Sequence: T19E7
    Flanking_sequences: ctggccagcggacaacggaagcgtggacgt aatccaaggatgagcagctcgccagtgaca
    Mapping_target: T19E7
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00030735
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007252
      WBStrain00024180
    Laboratory: JJ
    Status: Live
  Affects: Gene: WBGene00004804
    Transcript: T19E7.2d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T19E7.2d.1:c.442C>T
        HGVSp: CE49174:p.Gln148Ter
        cDNA_position: 442
        CDS_position: 442
        Protein_position: 148
        Exon_number: 2/3
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T19E7.2a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T19E7.2a.1:c.1642C>T
        HGVSp: CE27591:p.Gln548Ter
        cDNA_position: 1642
        CDS_position: 1642
        Protein_position: 548
        Exon_number: 7/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T19E7.2c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T19E7.2c.1:c.1372C>T
        HGVSp: CE31239:p.Gln458Ter
        cDNA_position: 1372
        CDS_position: 1372
        Protein_position: 458
        Exon_number: 5/6
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T19E7.2b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T19E7.2b.1:c.703C>T
        HGVSp: CE31238:p.Gln235Ter
        cDNA_position: 837
        CDS_position: 703
        Protein_position: 235
        Exon_number: 4/6
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000518535
  Genetics: Interpolated_map_position: IV 2.02679
  Description: Phenotype: WBPhenotype:0000631 Paper_evidence: WBPaper00037063
        Curator_confirmed: WBPerson712
        Remark: Homozygous animals are not protected from beta amyloid (Abeta42)-induced paralysis by caffeine. Paper_evidence: WBPaper00037063
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003596 Paper_evidence: WBPaper00037063
              Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: dvIs27 Paper_evidence: WBPaper00037063
              Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00037063
        Curator_confirmed: WBPerson712
        Remark: Homozygous animals become self-sterile adults. Paper_evidence: WBPaper00037063
            Curator_confirmed: WBPerson712
      WBPhenotype:0002087 Paper_evidence: WBPaper00040285
        Curator_confirmed: WBPerson2857
        Remark: Mutant animals die when exposed to low hydrogen sulfide (50 ppm). Paper_evidence: WBPaper00040285
            Curator_confirmed: WBPerson2857
        Affected_by: Molecule: WBMol:00004296 Paper_evidence: WBPaper00040285
              Curator_confirmed: WBPerson2857
    Phenotype_not_observed: WBPhenotype:0000643 Paper_evidence: WBPaper00037063
        Curator_confirmed: WBPerson712
        Remark: Homozygous animals are wild type in movement. Paper_evidence: WBPaper00037063
            Curator_confirmed: WBPerson712
  Reference: WBPaper00040285
    WBPaper00030735
    WBPaper00037063
  Method: Substitution_allele