WormBase Tree Display for Variation: WBVar00143187

WBVar00143187 Evidence: Paper_evidence: WBPaper00031105
  Name: Public_name: e408
    Other_name: K11E8.1h.2:c.536C>T
      K11E8.1l.1:c.536C>T
      K11E8.1g.2:c.536C>T
      K11E8.1f.1:c.536C>T
      CE28059:p.Ser179Leu
      CE28061:p.Ser179Leu
      K11E8.1g.1:c.536C>T
      K11E8.1d.1:c.536C>T
      K11E8.1e.2:c.536C>T
      CE28057:p.Ser179Leu
      K11E8.1f.2:c.536C>T
      CE28055:p.Ser179Leu
      K11E8.1i.1:c.536C>T
      CE28058:p.Ser179Leu
      CE28056:p.Ser179Leu
      K11E8.1h.1:c.536C>T
      CE45912:p.Ser289Leu
      K11E8.1r.1:c.866C>T
      CE28060:p.Ser179Leu
      K11E8.1e.1:c.536C>T
      K11E8.1d.2:c.536C>T
      CE28054:p.Ser179Leu
      K11E8.1k.1:c.536C>T
    HGVSg: CHROMOSOME_IV:g.10338170G>A
  Sequence_details: SMap: S_parent: Sequence: K11E8
    Flanking_sequences: acggatttgctggaactccaggatacttgt gccagaagttctcaagaaggatccatactc
    Mapping_target: K11E8
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00031105
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004165
      WBStrain00022482
      WBStrain00030762
      WBStrain00056767
    Laboratory: CB
      EN
    Status: Live
  Affects: Gene: WBGene00006779
    Transcript: K11E8.1f.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1f.2:c.536C>T
        HGVSp: CE28056:p.Ser179Leu
        cDNA_position: 766
        CDS_position: 536
        Protein_position: 179
        Exon_number: 7/18
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1e.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1e.1:c.536C>T
        HGVSp: CE28055:p.Ser179Leu
        cDNA_position: 833
        CDS_position: 536
        Protein_position: 179
        Exon_number: 8/19
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1h.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1h.2:c.536C>T
        HGVSp: CE28058:p.Ser179Leu
        cDNA_position: 770
        CDS_position: 536
        Protein_position: 179
        Exon_number: 7/19
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1d.1:c.536C>T
        HGVSp: CE28054:p.Ser179Leu
        cDNA_position: 760
        CDS_position: 536
        Protein_position: 179
        Exon_number: 7/17
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1g.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1g.2:c.536C>T
        HGVSp: CE28057:p.Ser179Leu
        cDNA_position: 770
        CDS_position: 536
        Protein_position: 179
        Exon_number: 7/18
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1f.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1f.1:c.536C>T
        HGVSp: CE28056:p.Ser179Leu
        cDNA_position: 847
        CDS_position: 536
        Protein_position: 179
        Exon_number: 8/19
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1h.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1h.1:c.536C>T
        HGVSp: CE28058:p.Ser179Leu
        cDNA_position: 832
        CDS_position: 536
        Protein_position: 179
        Exon_number: 8/20
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1e.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1e.2:c.536C>T
        HGVSp: CE28055:p.Ser179Leu
        cDNA_position: 766
        CDS_position: 536
        Protein_position: 179
        Exon_number: 7/18
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1g.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1g.1:c.536C>T
        HGVSp: CE28057:p.Ser179Leu
        cDNA_position: 836
        CDS_position: 536
        Protein_position: 179
        Exon_number: 8/19
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1k.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1k.1:c.536C>T
        HGVSp: CE28060:p.Ser179Leu
        cDNA_position: 536
        CDS_position: 536
        Protein_position: 179
        Exon_number: 5/14
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1i.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1i.1:c.536C>T
        HGVSp: CE28059:p.Ser179Leu
        cDNA_position: 771
        CDS_position: 536
        Protein_position: 179
        Exon_number: 7/16
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1d.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1d.2:c.536C>T
        HGVSp: CE28054:p.Ser179Leu
        cDNA_position: 847
        CDS_position: 536
        Protein_position: 179
        Exon_number: 8/18
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1r.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1r.1:c.866C>T
        HGVSp: CE45912:p.Ser289Leu
        cDNA_position: 866
        CDS_position: 866
        Protein_position: 289
        Exon_number: 8/19
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      K11E8.1l.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: K11E8.1l.1:c.536C>T
        HGVSp: CE28061:p.Ser179Leu
        cDNA_position: 536
        CDS_position: 536
        Protein_position: 179
        Exon_number: 5/14
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
    Interactor: WBInteraction000501679
  Genetics: Interpolated_map_position: IV 4.5762
    Mapping_data: In_multi_point: 764
      In_pos_neg_data: 956
        2739
  Description: Phenotype: WBPhenotype:0000004 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000153 Paper_evidence: WBPaper00002305
        Curator_confirmed: WBPerson557
      WBPhenotype:0000164 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: thin Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000205 Paper_evidence: WBPaper00002305
        Curator_confirmed: WBPerson557
      WBPhenotype:0000315 Paper_evidence: WBPaper00046308
        Curator_confirmed: WBPerson10425
      WBPhenotype:0000422 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slightly rippling movement Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000563 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: tends to shrink and relax when prodded Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00002305
        Curator_confirmed: WBPerson557
      WBPhenotype:0000616 Paper_evidence: WBPaper00042396
        Curator_confirmed: WBPerson1687
        Remark: GABAergic neuromuscular junctions (NMJs) are enlarged Paper_evidence: WBPaper00042396
            Curator_confirmed: WBPerson1687
        Recessive: Paper_evidence: WBPaper00042396
          Curator_confirmed: WBPerson1687
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00042396
            Curator_confirmed: WBPerson1687
        EQ_annotations: Anatomy_term: WBbt:0005190 PATO:0000460 Paper_evidence: WBPaper00042396
                Curator_confirmed: WBPerson1687
          GO_term: GO:0050808 PATO:0000460 Paper_evidence: WBPaper00042396
                Curator_confirmed: WBPerson1687
            GO:0045202 PATO:0000460 Paper_evidence: WBPaper00042396
                Curator_confirmed: WBPerson1687
      WBPhenotype:0000640 Paper_evidence: WBPaper00002305
        Curator_confirmed: WBPerson557
      WBPhenotype:0000641 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: lazy Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
          WBPaper00002305
        Curator_confirmed: WBPerson48
          WBPerson557
      WBPhenotype:0000646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slow, easy to score (ES3) in adult. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001005 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: poor backing thin Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001213 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: almost paralysed, larvae move better Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table S2 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00040284
    WBPaper00000031
    WBPaper00006052
    WBPaper00016234
    WBPaper00015072
    WBPaper00016473
    WBPaper00042396
    WBPaper00002305
    WBPaper00046308
    WBPaper00065298
    WBPaper00066013
    WBPaper00066032
  Method: Substitution_allele