WormBase Tree Display for Variation: WBVar02147421

WBVar02147421 Evidence: Paper_evidence: WBPaper00046863
  Name: Public_name: et27
    Other_name: ZC376.7b.2:c.965T>C
      CE32033:p.Leu322Pro
      CE38576:p.Leu324Pro
      ZC376.7b.1:c.965T>C
      CE15205:p.Leu338Pro
      ZC376.7c.1:c.971T>C
      ZC376.7a.1:c.1013T>C
      ZC376.7d.1:c.392T>C
      CE45623:p.Leu131Pro
      ZC376.7a.2:c.1013T>C
      ZC376.7c.2:c.971T>C
    HGVSg: CHROMOSOME_V:g.14196869T>C
  Sequence_details: SMap: S_parent: Sequence: ZC376
    Flanking_sequences: atgttgatcttttctcttctggacctcttc ttgtgttccgaaacaagaagacgttttcga
    Mapping_target: ZC376
    Type_of_mutation: Substitution: t c Paper_evidence: WBPaper00046863
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: QC
    Status: Live
  Affects: Gene: WBGene00013878
    Transcript: ZC376.7d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious_low_confidence
        PolyPhen: 0.993 probably_damaging
        HGVSc: ZC376.7d.1:c.392T>C
        HGVSp: CE45623:p.Leu131Pro
        cDNA_position: 392
        CDS_position: 392
        Protein_position: 131
        Exon_number: 2/3
        Codon_change: cTt/cCt
        Amino_acid_change: L/P
      ZC376.7c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.01 deleterious_low_confidence
        PolyPhen: 0.993 probably_damaging
        HGVSc: ZC376.7c.1:c.971T>C
        HGVSp: CE38576:p.Leu324Pro
        cDNA_position: 1008
        CDS_position: 971
        Protein_position: 324
        Exon_number: 8/10
        Codon_change: cTt/cCt
        Amino_acid_change: L/P
      ZC376.7a.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.01 deleterious_low_confidence
        PolyPhen: 0.993 probably_damaging
        HGVSc: ZC376.7a.2:c.1013T>C
        HGVSp: CE15205:p.Leu338Pro
        cDNA_position: 1183
        CDS_position: 1013
        Protein_position: 338
        Exon_number: 8/10
        Codon_change: cTt/cCt
        Amino_acid_change: L/P
      ZC376.7b.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.01 deleterious_low_confidence
        PolyPhen: 0.993 probably_damaging
        HGVSc: ZC376.7b.2:c.965T>C
        HGVSp: CE32033:p.Leu322Pro
        cDNA_position: 1139
        CDS_position: 965
        Protein_position: 322
        Exon_number: 9/11
        Codon_change: cTt/cCt
        Amino_acid_change: L/P
      ZC376.7a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.01 deleterious_low_confidence
        PolyPhen: 0.993 probably_damaging
        HGVSc: ZC376.7a.1:c.1013T>C
        HGVSp: CE15205:p.Leu338Pro
        cDNA_position: 1050
        CDS_position: 1013
        Protein_position: 338
        Exon_number: 7/9
        Codon_change: cTt/cCt
        Amino_acid_change: L/P
      ZC376.7c.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.01 deleterious_low_confidence
        PolyPhen: 0.993 probably_damaging
        HGVSc: ZC376.7c.2:c.971T>C
        HGVSp: CE38576:p.Leu324Pro
        cDNA_position: 1121
        CDS_position: 971
        Protein_position: 324
        Exon_number: 9/11
        Codon_change: cTt/cCt
        Amino_acid_change: L/P
      ZC376.7b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.01 deleterious_low_confidence
        PolyPhen: 0.993 probably_damaging
        HGVSc: ZC376.7b.1:c.965T>C
        HGVSp: CE32033:p.Leu322Pro
        cDNA_position: 1002
        CDS_position: 965
        Protein_position: 322
        Exon_number: 8/10
        Codon_change: cTt/cCt
        Amino_acid_change: L/P
    Interactor: WBInteraction000537440
  Genetics: Interpolated_map_position: V 6.1969
  Description: Phenotype_not_observed: WBPhenotype:0000306 Paper_evidence: WBPaper00046863
        Curator_confirmed: WBPerson2987
        Remark: atfs-1(et27) did not affect expression of the hsp-60::GFP transgene (Figure 5B,5C) Paper_evidence: WBPaper00046863
            Curator_confirmed: WBPerson2987
        EQ_annotations: GO_term: GO:0034514 PATO:0000460 Paper_evidence: WBPaper00046863
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: hsp-60::GFP Paper_evidence: WBPaper00046863
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000523 Paper_evidence: WBPaper00046863
        Curator_confirmed: WBPerson2987
        Remark: "Ten of these mutants were characterized in some detail. All were growth-inhibited by 0.5 mM fluvastatin, to which the atfs-1(et15) allele is resistant, and all harbored mutations within the coding region of atfs-1 (Figure 5, D and E)." Paper_evidence: WBPaper00046863
            Curator_confirmed: WBPerson2987
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00046863
            Curator_confirmed: WBPerson2987
        Affected_by: Molecule: WBMol:00003950 Paper_evidence: WBPaper00046863
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00046863
  Method: Substitution_allele