WormBase Tree Display for Variation: WBVar00089947

WBVar00089947 Evidence: Paper_evidence: WBPaper00024411
  Name: Public_name: n1082
    Other_name: CE05480:p.Ala367Val
      C50H2.2b.1:c.1100C>T
      CE36586:p.Ala401Val
      C50H2.2a.1:c.1202C>T
    HGVSg: CHROMOSOME_V:g.9906998C>T
  Sequence_details: SMap: S_parent: Sequence: C50H2
    Flanking_sequences: acataacagttcatgttaaaatatgttggg tgcttatcaagttgtcatggctattcttca
    Mapping_target: C50H2
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026963
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00001211
    Transcript: C50H2.2b.1 (11)
      C50H2.2a.1 (12)
  Genetics: Interpolated_map_position: V 2.20951
    Mapping_data: In_multi_point: 787
  Description: Phenotype: WBPhenotype:0000002 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000006 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Penetrance: Complete: See Table 5 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Range: 100 100 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000154 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: Mutants show a 58 percent drop in brood size (compared to wild-type) Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000316 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001340 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: See Table 1 Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Range: 91 91 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 0.75 mg/ml imipramine Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Temperature: 24 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000207 Paper_evidence: WBPaper00056479
        Curator_confirmed: WBPerson712
        Remark: normal defecation rhythm Paper_evidence: WBPaper00056479
            Curator_confirmed: WBPerson712
      WBPhenotype:0001068 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 7.5 mg/ml serotonin Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Temperature: 24 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00016216
    WBPaper00001133
    WBPaper00016261
    WBPaper00056479
  Method: Substitution_allele