WormBase Tree Display for Variation: WBVar00142910

WBVar00142910 Evidence: Paper_evidence: WBPaper00002646
  Name: Public_name: e15
    Other_name: CE48967:p.Gly386Glu
      CE26381:p.Gly387Glu
      R13A1.4a.1:c.1160G>A
      R13A1.4c.1:c.1163G>A
      R13A1.4b.1:c.1157G>A
      CE49123:p.Gly388Glu
      R13A1.4d.1:c.1040G>A
      CE04840:p.Gly347Glu
    HGVSg: CHROMOSOME_IV:g.7201523G>A
  Sequence_details: SMap: S_parent: Sequence: R13A1
    Flanking_sequences: aggataattttcaggacctcaaagatgcgg agccatcacaactcaaacaaaagaaaattt
    Mapping_target: R13A1
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002646
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004079
      WBStrain00006289
      WBStrain00006290
      WBStrain00026625
      WBStrain00026628
      WBStrain00026629
      WBStrain00026630
      WBStrain00026631
      WBStrain00026633
    Laboratory: CB
    Status: Live
  Linked_to: WBVar00142911
    WBVar00142912
    WBVar00142913
    WBVar00142914
  Affects: Gene: WBGene00006748
    Transcript: R13A1.4d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.05 deleterious
        PolyPhen: 0.737 possibly_damaging
        HGVSc: R13A1.4d.1:c.1040G>A
        HGVSp: CE04840:p.Gly347Glu
        cDNA_position: 1040
        CDS_position: 1040
        Protein_position: 347
        Exon_number: 10/18
        Codon_change: gGa/gAa
        Amino_acid_change: G/E
      R13A1.4c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.04 deleterious
        PolyPhen: 0.85 possibly_damaging
        HGVSc: R13A1.4c.1:c.1163G>A
        HGVSp: CE49123:p.Gly388Glu
        cDNA_position: 1163
        CDS_position: 1163
        Protein_position: 388
        Exon_number: 11/19
        Codon_change: gGa/gAa
        Amino_acid_change: G/E
      R13A1.4a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.04 deleterious
        PolyPhen: 0.953 possibly_damaging
        HGVSc: R13A1.4a.1:c.1160G>A
        HGVSp: CE26381:p.Gly387Glu
        cDNA_position: 1160
        CDS_position: 1160
        Protein_position: 387
        Exon_number: 12/21
        Codon_change: gGa/gAa
        Amino_acid_change: G/E
      R13A1.4b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.05 deleterious
        PolyPhen: 0.996 probably_damaging
        HGVSc: R13A1.4b.1:c.1157G>A
        HGVSp: CE48967:p.Gly386Glu
        cDNA_position: 1157
        CDS_position: 1157
        Protein_position: 386
        Exon_number: 12/20
        Codon_change: gGa/gAa
        Amino_acid_change: G/E
    Interactor: WBInteraction000517772
      WBInteraction000517956
  Genetics: Interpolated_map_position: IV 3.29358
    Mapping_data: In_2_point: 105
        820
        821
        987
      In_multi_point: 107
        108
        770
        3375
  Description: Phenotype: WBPhenotype:0000164 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000565 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: dominant coiler allele Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
        Semi_dominant: Paper_evidence: WBPaper00000031
          Curator_confirmed: WBPerson48
      WBPhenotype:0001622 Paper_evidence: WBPaper00002487
        Curator_confirmed: WBPerson554
        Remark: Figure 3 Paper_evidence: WBPaper00002487
            Curator_confirmed: WBPerson554
        Affected_by: Molecule: WBMol:00004929 Paper_evidence: WBPaper00002487
              Curator_confirmed: WBPerson554
      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:0002289 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002291 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002295 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002300 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002303 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002310 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:0002336 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002344 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002347 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004023 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
  Reference: WBPaper00010943
    WBPaper00015305
    WBPaper00015371
    WBPaper00043908
    WBPaper00022049
    WBPaper00000031
    WBPaper00002487
    WBPaper00015036
    WBPaper00024207
    WBPaper00018951
  Method: Substitution_allele