WormBase Tree Display for Variation: WBVar00088400

WBVar00088400 Evidence: Paper_evidence: WBPaper00002892
  Name: Public_name: ky51
    Other_name: CE07832:p.Pro70Ser
      C02C6.1a.1:c.208C>T
      CE07833:p.Pro70Ser
      C02C6.1b.1:c.208C>T
    HGVSg: CHROMOSOME_X:g.15569193C>T
  Sequence_details: SMap: S_parent: Sequence: C02C6
    Flanking_sequences: ccacgtggatcaggaatcgtaacacgtcgt cacttattttgcagcttattcaagatcgca
    Mapping_target: C02C6
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005217
    Laboratory: CX
    Status: Live
  Affects: Gene: WBGene00001130
      WBGene00305252
    Transcript: C02C6.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C02C6.1b.1:c.208C>T
        HGVSp: CE07832:p.Pro70Ser
        cDNA_position: 208
        CDS_position: 208
        Protein_position: 70
        Exon_number: 2/8
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      C02C6.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C02C6.1a.1:c.208C>T
        HGVSp: CE07833:p.Pro70Ser
        cDNA_position: 208
        CDS_position: 208
        Protein_position: 70
        Exon_number: 2/10
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      C02C6.16
    Interactor (12)
  Genetics: Interpolated_map_position: X 22.8498
  Description: Phenotype (19)
    Phenotype_not_observed: WBPhenotype:0000679 Paper_evidence: WBPaper00028448
        Curator_confirmed: WBPerson712
        Remark: PKD-2::GFP dendritic and ciliary localization was not obviously altered in dyn-1(ky51) mutants. Paper_evidence: WBPaper00028448
            Curator_confirmed: WBPerson712
      WBPhenotype:0000961 Paper_evidence: WBPaper00062703
        Curator_confirmed: WBPerson712
        Remark: Pre-axotomy imaging and analysis showed no visible difference <in EBP-2::GFP pattern> between wild-type and dyn-1(ky51) mutant animals before axotomy (Figure 1 A-C). Paper_evidence: WBPaper00062703
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005490 PATO:0000460 Paper_evidence: WBPaper00062703
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were incubated for at least 2 hours at 25C before confocal imaging (top panels). Paper_evidence: WBPaper00062703
              Curator_confirmed: WBPerson712
          Temperature: 25 Paper_evidence: WBPaper00062703
              Curator_confirmed: WBPerson712
      WBPhenotype:0001260 Paper_evidence: WBPaper00003831
        Curator_confirmed: WBPerson712
        Remark: Oocytes were morphologically wild-type. Paper_evidence: WBPaper00003831
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006797 PATO:0000460 Paper_evidence: WBPaper00003831
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00003831
              Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: YP170::GFP Paper_evidence: WBPaper00003831
              Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:0050709
    Models_disease_in_annotation: WBDOannot00000798
  Reference (12)
  Remark: missense, pro70 to ser within GTPase domain. email11 from wen chen
  Method: Substitution_allele