WormBase Tree Display for Variation: WBVar00088225

WBVar00088225 Evidence: Paper_evidence: WBPaper00033094
  Name: Public_name: k501
    Other_name: CE17354:p.Pro407Ser
      B0545.1b.2:c.1219C>T
      B0545.1a.1:c.1630C>T
      B0545.1b.1:c.1219C>T
      CE17353:p.Pro544Ser
      B0545.1b.3:c.1219C>T
    HGVSg: CHROMOSOME_IV:g.107952C>T
  Sequence_details: SMap: S_parent: Sequence: B0545
    Flanking_sequences: acattctgtggaacaccggattatatcagt ctgaaattatcaagggtcaactttacaatg
    Mapping_target: B0545
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00033094
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026559
      WBStrain00030695
    Laboratory: MJ
    Status: Live
  Affects: Gene: WBGene00006599
    Transcript: B0545.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: B0545.1b.1:c.1219C>T
        HGVSp: CE17354:p.Pro407Ser
        cDNA_position: 1732
        CDS_position: 1219
        Protein_position: 407
        Exon_number: 12/14
        Codon_change: Cct/Tct
        Amino_acid_change: P/S
      B0545.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: B0545.1a.1:c.1630C>T
        HGVSp: CE17353:p.Pro544Ser
        cDNA_position: 1702
        CDS_position: 1630
        Protein_position: 544
        Exon_number: 11/13
        Codon_change: Cct/Tct
        Amino_acid_change: P/S
      B0545.1b.3 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: B0545.1b.3:c.1219C>T
        HGVSp: CE17354:p.Pro407Ser
        cDNA_position: 1255
        CDS_position: 1219
        Protein_position: 407
        Exon_number: 7/9
        Codon_change: Cct/Tct
        Amino_acid_change: P/S
      B0545.1b.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: B0545.1b.2:c.1219C>T
        HGVSp: CE17354:p.Pro407Ser
        cDNA_position: 1605
        CDS_position: 1219
        Protein_position: 407
        Exon_number: 10/11
        Codon_change: Cct/Tct
        Amino_acid_change: P/S
    Interactor: WBInteraction000556208
  Genetics: Interpolated_map_position: IV -26.9962
    Mapping_data: In_2_point: 838
      In_multi_point: 676
        679
  Description: Phenotype: WBPhenotype:0001838 Paper_evidence: WBPaper00033094
        Curator_confirmed: WBPerson2021
        Remark: PMA-induced reporter gene expression was abrogated in all the tpa-1 mutants, unlike wild-type Paper_evidence: WBPaper00033094
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: frIs7 [pnlp-29::GFP] Paper_evidence: WBPaper00033094
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001839 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resistant to 0.1 μM TPA Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00000950 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0001911 Paper_evidence: WBPaper00050116
        Curator_confirmed: WBPerson1068
        Remark: Axon regeneration defective in adult D-type neurons. Paper_evidence: WBPaper00050116
            Curator_confirmed: WBPerson1068
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00050116
                Curator_confirmed: WBPerson1068
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00050116
                Curator_confirmed: WBPerson1068
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00050116
                Curator_confirmed: WBPerson1068
          GO_term: GO:0031103 PATO:0001511 Paper_evidence: WBPaper00050116
                Curator_confirmed: WBPerson1068
    Phenotype_not_observed: WBPhenotype:0000876 Paper_evidence: WBPaper00033094
        Curator_confirmed: WBPerson2021
        Remark: Upon exposure to high salt, the response in all the tpa-1 mutants tested was close to that seen in wild-type worms Paper_evidence: WBPaper00033094
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: frIs7 [pnlp-29::GFP] Paper_evidence: WBPaper00033094
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001800 Paper_evidence: WBPaper00033094
        Curator_confirmed: WBPerson2021
        Remark: tpa-1(k501) showed a normal increase in pnlp-29::GFP expression after infection like wild-type Paper_evidence: WBPaper00033094
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: frIs7 [pnlp-29::GFP] Paper_evidence: WBPaper00033094
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001840 Paper_evidence: WBPaper00033094
        Curator_confirmed: WBPerson2021
        Remark: tpa-1(k501), showed a normal increase in pnlp-29::GFP expression after wounding Paper_evidence: WBPaper00033094
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: frIs7 [pnlp-29::GFP] Paper_evidence: WBPaper00033094
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00033094
    WBPaper00050116
  Method: Substitution_allele