WormBase Tree Display for Variation: WBVar00094784

WBVar00094784 Evidence: Paper_evidence: WBPaper00035477
  Name: Public_name: ot20
    Other_name: M03F8.2d.1:c.577T>C
      CE38399:p.Ser193Pro
      M03F8.2b.1:c.622T>C
      CE53074:p.Ser193Pro
      M03F8.2a.1:c.577T>C
      CE38401:p.Ser208Pro
      M03F8.2e.1:c.-234T>C
      CE38400:p.Ser208Pro
      M03F8.2c.1:c.622T>C
    HGVSg: CHROMOSOME_V:g.5946257T>C
  Sequence_details: SMap: S_parent: Sequence: M03F8
    Flanking_sequences: tcactcgtacacctcattctcaaatacgatt catcttggtgtcaatatgaagcactgaaata
    Mapping_target: M03F8
    Type_of_mutation: Substitution: t c Paper_evidence: WBPaper00035477
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029283
    Laboratory: OH
    Status: Live
  Affects: Gene: WBGene00004206
    Transcript: M03F8.2e.1 VEP_consequence: 5_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: M03F8.2e.1:c.-234T>C
        cDNA_position: 545
        Exon_number: 3/8
      M03F8.2d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: M03F8.2d.1:c.577T>C
        HGVSp: CE53074:p.Ser193Pro
        cDNA_position: 599
        CDS_position: 577
        Protein_position: 193
        Exon_number: 5/9
        Codon_change: Tca/Cca
        Amino_acid_change: S/P
      M03F8.2c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: M03F8.2c.1:c.622T>C
        HGVSp: CE38401:p.Ser208Pro
        cDNA_position: 622
        CDS_position: 622
        Protein_position: 208
        Exon_number: 4/8
        Codon_change: Tca/Cca
        Amino_acid_change: S/P
      M03F8.2a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: M03F8.2a.1:c.577T>C
        HGVSp: CE38399:p.Ser193Pro
        cDNA_position: 592
        CDS_position: 577
        Protein_position: 193
        Exon_number: 5/8
        Codon_change: Tca/Cca
        Amino_acid_change: S/P
      M03F8.2b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: M03F8.2b.1:c.622T>C
        HGVSp: CE38400:p.Ser208Pro
        cDNA_position: 936
        CDS_position: 622
        Protein_position: 208
        Exon_number: 5/8
        Codon_change: Tca/Cca
        Amino_acid_change: S/P
  Genetics: Interpolated_map_position: V -0.724308
  Description: Phenotype (11)
    Phenotype_not_observed: WBPhenotype:0000604 Paper_evidence: WBPaper00035477
        Curator_confirmed: WBPerson2021
        Remark: Overall organization of the nervous system is intact in animals lacking all pst-1 function. No gross disruption of neuronal cell fate or development. Paper_evidence: WBPaper00035477
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00035477
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035477
            Curator_confirmed: WBPerson2021
        Temperature_sensitive: Cold_sensitive: 15C Paper_evidence: WBPaper00035477
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00035477
  Method: Substitution_allele