WormBase Tree Display for Variation: WBVar00095133

WBVar00095133 Evidence: Paper_evidence: WBPaper00002110
  Name: Public_name: p1000
    Other_name: W09B12.1.1:c.297G>A
      CE07569:p.Trp99Ter
    HGVSg: CHROMOSOME_X:g.16368542G>A
  Sequence_details: SMap: S_parent: Sequence: W09B12
    Flanking_sequences: ctttggagacttttatggttccactatgtg aatgccaacactaaattatccgaagattgt
    Mapping_target: W09B12
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002110
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007852
      WBStrain00024338
      WBStrain00030800
      WBStrain00040622
    Laboratory: PR
    Status: Live
  Affects: Gene: WBGene00000035
    Transcript: W09B12.1.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: W09B12.1.1:c.297G>A
        HGVSp: CE07569:p.Trp99Ter
        cDNA_position: 385
        CDS_position: 297
        Protein_position: 99
        Exon_number: 4/12
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
    Interactor: WBInteraction000500341
      WBInteraction000500342
      WBInteraction000500343
      WBInteraction000500344
      WBInteraction000500356
  Genetics: Interpolated_map_position: X 23.8979
    Mapping_data: In_multi_point: 195
        196
      In_pos_neg_data (15)
  Description: Phenotype: WBPhenotype:0000124 Paper_evidence: WBPaper00000514
        Curator_confirmed: WBPerson712
        Remark: Acetylcholinesterase specific activity exhibit a continuous rise in activity per worm from hatching to adulthood(50hr) in both p1000 and N2 animals, however in adult, activity levels are significantly decreased in p1000 animals. Paper_evidence: WBPaper00000514
            Curator_confirmed: WBPerson712
      WBPhenotype:0000177 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: class A acetylcholinesterase reduced 100% Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES1_Very_hard_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001289 Paper_evidence: WBPaper00000795
        Curator_confirmed: WBPerson712
        Remark: Progeny were assayed for AChE activity showing the characteristic sodium deoxycholate (DOC) resistance of class A. Paper_evidence: WBPaper00000795
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00002987 Paper_evidence: WBPaper00000795
              Curator_confirmed: WBPerson712
      WBPhenotype:0001987 Paper_evidence: WBPaper00001039
        Curator_confirmed: WBPerson712
        Remark: Animals contained severely reduced levels of detectable class A AChE activity. Paper_evidence: WBPaper00001039
            Curator_confirmed: WBPerson712
      WBPhenotype:0001988 Paper_evidence: WBPaper00000514
        Curator_confirmed: WBPerson712
        Remark: Animals exhibits resistance to class A acetylcholinesterase inhibitor Triton X-100. Paper_evidence: WBPaper00000514
            Curator_confirmed: WBPerson712
          Animals exhibits DOC sensitivity to class B acetylcholinesterase inhibitor sodium deoxychlorate. Paper_evidence: WBPaper00000514
            Curator_confirmed: WBPerson712
      WBPhenotype:0002241 Paper_evidence: WBPaper00051284
        Curator_confirmed: WBPerson37651
        Remark: Figure 6B Paper_evidence: WBPaper00051284
            Curator_confirmed: WBPerson37651
      WBPhenotype:0004028 Paper_evidence: WBPaper00038270
        Curator_confirmed: WBPerson712
        Remark: ace-1(p1000) caused significant defects in slowing behavior (data not shown). Paper_evidence: WBPaper00038270
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000517 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: no behavioral phenotype alone Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES1_Very_hard_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000795
        Curator_confirmed: WBPerson712
  Reference: WBPaper00038270
    WBPaper00002110
    WBPaper00001039
    WBPaper00000513
    WBPaper00015981
    WBPaper00000514
    WBPaper00021644
    WBPaper00000795
    WBPaper00051284
  Method: Substitution_allele