WormBase Tree Display for Variation: WBVar00094772

WBVar00094772 Evidence: Person_evidence: WBPerson260
  Name: Public_name: ot1
    Other_name: K10B2.1d.1:c.1663C>T
      CE28600:p.Pro610Ser
      CE50404:p.Pro610Ser
      K10B2.1b.1:c.1828C>T
      K10B2.1c.1:c.1663C>T
      K10B2.1a.1:c.1828C>T
      CE50396:p.Pro555Ser
      CE50346:p.Pro555Ser
    HGVSg: CHROMOSOME_II:g.6373695C>T
  Sequence_details: SMap: S_parent: Sequence: K10B2
    Flanking_sequences: gttaataatccgaacgtggctggaccagcg caccgcaaccacacaatcagaatcatagaa
    Mapping_target: K10B2
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029321
      WBStrain00029324
      WBStrain00029329
      WBStrain00029333
    Laboratory: OH
    Status: Live
  Affects: Gene: WBGene00003009
    Transcript: K10B2.1c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K10B2.1c.1:c.1663C>T
        HGVSp: CE50346:p.Pro555Ser
        cDNA_position: 1663
        CDS_position: 1663
        Protein_position: 555
        Exon_number: 6/7
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      K10B2.1d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K10B2.1d.1:c.1663C>T
        HGVSp: CE50396:p.Pro555Ser
        cDNA_position: 1663
        CDS_position: 1663
        Protein_position: 555
        Exon_number: 6/7
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      K10B2.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K10B2.1b.1:c.1828C>T
        HGVSp: CE50404:p.Pro610Ser
        cDNA_position: 1838
        CDS_position: 1828
        Protein_position: 610
        Exon_number: 8/10
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      K10B2.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K10B2.1a.1:c.1828C>T
        HGVSp: CE28600:p.Pro610Ser
        cDNA_position: 1836
        CDS_position: 1828
        Protein_position: 610
        Exon_number: 8/10
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
    Interactor: WBInteraction000520064
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: II -0.376159
  Description: Phenotype: WBPhenotype:0001224 Person_evidence: WBPerson260
        Curator_confirmed: WBPerson48
        Penetrance: Incomplete: Person_evidence: WBPerson260
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson260
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson260
            Curator_confirmed: WBPerson48
    Phenotype_not_observed: WBPhenotype:0000740 Person_evidence: WBPerson260
        Curator_confirmed: WBPerson48
  Reference: WBPaper00018033
    WBPaper00025446
    WBPaper00016962
  Remark: Mehta, Loria and Hobert (2004), Genetics, in press
    ot1 is a P(610) to S mutation Person_evidence: WBPerson260
  Method: Substitution_allele