WormBase Tree Display for Variation: WBVar00143348

WBVar00143348 Evidence: Paper_evidence: WBPaper00031592
  Name: Public_name: e625
    Other_name: CE49197:p.Ala631Val
      C11D2.6j.1:c.1892C>T
      C11D2.6g.1:c.1928C>T
      C11D2.6b.1:c.1748C>T
      CE49437:p.Ala643Val
      C11D2.6n.1:c.1946C>T
      C11D2.6f.1:c.1748C>T
      CE48791:p.Ala643Val
      CE49219:p.Ala631Val
      CE49155:p.Ala631Val
      C11D2.6c.1:c.1748C>T
      CE49413:p.Ala649Val
      C11D2.6d.1:c.1928C>T
      C11D2.6e.1:c.1928C>T
      C11D2.6k.1:c.1892C>T
      CE48883:p.Ala583Val
      CE48950:p.Ala583Val
      C11D2.6h.1:c.1748C>T
      C11D2.6l.1:c.1892C>T
      C11D2.6p.1:c.1946C>T
      C11D2.6a.1:c.1928C>T
      CE48736:p.Ala643Val
      CE49180:p.Ala583Val
      C11D2.6i.1:c.1892C>T
      CE48978:p.Ala583Val
      CE49459:p.Ala631Val
      C11D2.6o.1:c.1946C>T
      CE49195:p.Ala649Val
      CE49351:p.Ala649Val
      CE37196:p.Ala643Val
      CE49262:p.Ala649Val
      C11D2.6m.1:c.1946C>T
    HGVSg: CHROMOSOME_IV:g.6166905G>A
  Sequence_details: SMap: S_parent: Sequence: C11D2
    Flanking_sequences: attttcagattgtgctctccctgttcgttg cgtaattcttgataacttggaaatggacga
    Mapping_target: C11D2
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00031592
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00006352
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006809
    Transcript: C11D2.6b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6b.1:c.1748C>T
        HGVSp: CE48883:p.Ala583Val
        cDNA_position: 1748
        CDS_position: 1748
        Protein_position: 583
        Exon_number: 10/27
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6i.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6i.1:c.1892C>T
        HGVSp: CE49155:p.Ala631Val
        cDNA_position: 1892
        CDS_position: 1892
        Protein_position: 631
        Exon_number: 11/29
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6a.1:c.1928C>T
        HGVSp: CE48736:p.Ala643Val
        cDNA_position: 2031
        CDS_position: 1928
        Protein_position: 643
        Exon_number: 12/30
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6l.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6l.1:c.1892C>T
        HGVSp: CE49197:p.Ala631Val
        cDNA_position: 1892
        CDS_position: 1892
        Protein_position: 631
        Exon_number: 11/28
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6e.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6e.1:c.1928C>T
        HGVSp: CE48791:p.Ala643Val
        cDNA_position: 1928
        CDS_position: 1928
        Protein_position: 643
        Exon_number: 11/28
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6g.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6g.1:c.1928C>T
        HGVSp: CE49437:p.Ala643Val
        cDNA_position: 1928
        CDS_position: 1928
        Protein_position: 643
        Exon_number: 11/28
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6m.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6m.1:c.1946C>T
        HGVSp: CE49195:p.Ala649Val
        cDNA_position: 1946
        CDS_position: 1946
        Protein_position: 649
        Exon_number: 12/30
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6k.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6k.1:c.1892C>T
        HGVSp: CE49459:p.Ala631Val
        cDNA_position: 1892
        CDS_position: 1892
        Protein_position: 631
        Exon_number: 11/28
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6o.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6o.1:c.1946C>T
        HGVSp: CE49351:p.Ala649Val
        cDNA_position: 1946
        CDS_position: 1946
        Protein_position: 649
        Exon_number: 12/29
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6p.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6p.1:c.1946C>T
        HGVSp: CE49413:p.Ala649Val
        cDNA_position: 1946
        CDS_position: 1946
        Protein_position: 649
        Exon_number: 12/29
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6f.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6f.1:c.1748C>T
        HGVSp: CE48950:p.Ala583Val
        cDNA_position: 1748
        CDS_position: 1748
        Protein_position: 583
        Exon_number: 10/26
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6d.1:c.1928C>T
        HGVSp: CE37196:p.Ala643Val
        cDNA_position: 1928
        CDS_position: 1928
        Protein_position: 643
        Exon_number: 11/29
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6c.1:c.1748C>T
        HGVSp: CE48978:p.Ala583Val
        cDNA_position: 1748
        CDS_position: 1748
        Protein_position: 583
        Exon_number: 10/29
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6h.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6h.1:c.1748C>T
        HGVSp: CE49180:p.Ala583Val
        cDNA_position: 1748
        CDS_position: 1748
        Protein_position: 583
        Exon_number: 10/27
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6n.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6n.1:c.1946C>T
        HGVSp: CE49262:p.Ala649Val
        cDNA_position: 1946
        CDS_position: 1946
        Protein_position: 649
        Exon_number: 12/28
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
      C11D2.6j.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 0.999 probably_damaging
        HGVSc: C11D2.6j.1:c.1892C>T
        HGVSp: CE49219:p.Ala631Val
        cDNA_position: 1892
        CDS_position: 1892
        Protein_position: 631
        Exon_number: 11/27
        Codon_change: gCc/gTc
        Amino_acid_change: A/V
  Genetics: Interpolated_map_position: IV 3.06177
    Mapping_data: In_2_point: 323
      In_multi_point: 1422
  Description: Phenotype: WBPhenotype:0000004 Paper_evidence: WBPaper00031592
        Curator_confirmed: WBPerson712
        Semi_dominant: Paper_evidence: WBPaper00031592
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00031592
            Curator_confirmed: WBPerson712
      WBPhenotype:0000164 Paper_evidence: WBPaper00043908
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson2987
      WBPhenotype:0000324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000565 Paper_evidence: WBPaper00031592
        Curator_confirmed: WBPerson712
        Remark: Mutants showed semi-dominant, uncoordinated, and exaggerated body bends during either spontaneous or stimulated locomotion. Paper_evidence: WBPaper00031592
            Curator_confirmed: WBPerson712
        Semi_dominant: Paper_evidence: WBPaper00031592
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00031592
            Curator_confirmed: WBPerson712
      WBPhenotype:0000616 Paper_evidence: WBPaper00031592
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited unusually large HSN synapses. Paper_evidence: WBPaper00031592
            Curator_confirmed: WBPerson712
        Semi_dominant: Paper_evidence: WBPaper00031592
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00031592
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0000664 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: irregular loopy movement both forward and reverse; slight movement abnormality in e625/+ Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Ease_of_scoring: ES2_Difficult_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000679 Paper_evidence: WBPaper00031592
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited abnormal active zone marker distribution. Paper_evidence: WBPaper00031592
            Curator_confirmed: WBPerson712
        Semi_dominant: Paper_evidence: WBPaper00031592
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00031592
            Curator_confirmed: WBPerson712
      WBPhenotype:0000697 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: sometimes protrusive vulva Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0001005 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0001316 Paper_evidence: WBPaper00031592
        Curator_confirmed: WBPerson712
        Remark: No ePSC could be evoked. Paper_evidence: WBPaper00031592
            Curator_confirmed: WBPerson712
        Semi_dominant: Paper_evidence: WBPaper00031592
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00031592
            Curator_confirmed: WBPerson712
      WBPhenotype:0001319 Paper_evidence: WBPaper00031592
        Curator_confirmed: WBPerson712
        Remark: Some animals displayed a normal frequency of mPSC while others had no mPSC at all. Paper_evidence: WBPaper00031592
            Curator_confirmed: WBPerson712
        Semi_dominant: Paper_evidence: WBPaper00031592
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00031592
            Curator_confirmed: WBPerson712
      WBPhenotype:0001639 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0001716 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002284 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002288 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002293 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002295 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002300 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002301 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002309 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002312 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002323 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002328 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002335 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002345 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004023 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000641 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: active Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:0081048
    Models_disease_in_annotation: WBDOannot00001105
  Reference: WBPaper00043908
    WBPaper00000031
    WBPaper00031592
    WBPaper00025465
    WBPaper00064938
  Method: Substitution_allele