WormBase Tree Display for Variation: WBVar00144136

WBVar00144136 Evidence: Paper_evidence: WBPaper00027720
  Name: Public_name: e1597
    Other_name: CE41303:p.Ala331Thr
      C30D11.1l.1:c.907G>A
      C30D11.1r.1:c.982G>A
      CE48244:p.Ala438Thr
      C30D11.1g.1:c.991G>A
      C30D11.1f.1:c.991G>A
      CE54336:p.Ala338Thr
      CE54333:p.Ala328Thr
      CE54330:p.Ala338Thr
      C30D11.1h.1:c.991G>A
      CE41301:p.Ala341Thr
      CE41297:p.Ala369Thr
      C30D11.1k.1:c.907G>A
      CE41298:p.Ala361Thr
      CE54329:p.Ala300Thr
      CE54320:p.Ala303Thr
      CE27805:p.Ala331Thr
      CE41300:p.Ala345Thr
      CE05338:p.Ala328Thr
      CE54338:p.Ala303Thr
      C30D11.1p.1:c.1012G>A
      C30D11.1m.1:c.898G>A
      CE54332:p.Ala300Thr
      C30D11.1j.1:c.1312G>A
      C30D11.1e.1:c.1021G>A
      CE48274:p.Ala285Thr
      CE41299:p.Ala403Thr
      C30D11.1q.1:c.1012G>A
      CE41302:p.Ala331Thr
      C30D11.1n.1:c.898G>A
      C30D11.1b.1:c.1081G>A
      C30D11.1o.1:c.1021G>A
      C30D11.1s.1:c.982G>A
      C30D11.1a.1:c.1105G>A
      C30D11.1c.1:c.1207G>A
      C30D11.1d.1:c.1033G>A
      C30D11.1i.1:c.853G>A
      CE54339:p.Ala341Thr
    HGVSg: CHROMOSOME_III:g.4141766G>A
  Sequence_details: SMap: S_parent: Sequence: C30D11
    Flanking_sequences: atcatgatgattctcggttctttgatgtac cctctgtgttcggtaatgtatcggcgatta
    Mapping_target: C30D11
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00027720
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004357
      WBStrain00026998
      WBStrain00026999
    Laboratory: CB
    Status: Live
  Linked_to: WBVar00144137
    WBVar00144138
  Affects: Gene: WBGene00006830
    Transcript: C30D11.1k.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.995 probably_damaging
        HGVSc: C30D11.1k.1:c.907G>A
        HGVSp: CE54320:p.Ala303Thr
        cDNA_position: 1028
        CDS_position: 907
        Protein_position: 303
        Exon_number: 8/17
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1l.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 1 probably_damaging
        HGVSc: C30D11.1l.1:c.907G>A
        HGVSp: CE54338:p.Ala303Thr
        cDNA_position: 1028
        CDS_position: 907
        Protein_position: 303
        Exon_number: 8/16
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1h.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.904 possibly_damaging
        HGVSc: C30D11.1h.1:c.991G>A
        HGVSp: CE41303:p.Ala331Thr
        cDNA_position: 991
        CDS_position: 991
        Protein_position: 331
        Exon_number: 7/15
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.998 probably_damaging
        HGVSc: C30D11.1a.1:c.1105G>A
        HGVSp: CE41297:p.Ala369Thr
        cDNA_position: 1105
        CDS_position: 1105
        Protein_position: 369
        Exon_number: 7/15
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1j.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.998 probably_damaging
        HGVSc: C30D11.1j.1:c.1312G>A
        HGVSp: CE48244:p.Ala438Thr
        cDNA_position: 1312
        CDS_position: 1312
        Protein_position: 438
        Exon_number: 8/16
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1q.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.904 possibly_damaging
        HGVSc: C30D11.1q.1:c.1012G>A
        HGVSp: CE54330:p.Ala338Thr
        cDNA_position: 1012
        CDS_position: 1012
        Protein_position: 338
        Exon_number: 7/14
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.998 probably_damaging
        HGVSc: C30D11.1c.1:c.1207G>A
        HGVSp: CE41299:p.Ala403Thr
        cDNA_position: 1207
        CDS_position: 1207
        Protein_position: 403
        Exon_number: 7/15
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1e.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.998 probably_damaging
        HGVSc: C30D11.1e.1:c.1021G>A
        HGVSp: CE41301:p.Ala341Thr
        cDNA_position: 1021
        CDS_position: 1021
        Protein_position: 341
        Exon_number: 7/15
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1m.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.995 probably_damaging
        HGVSc: C30D11.1m.1:c.898G>A
        HGVSp: CE54332:p.Ala300Thr
        cDNA_position: 898
        CDS_position: 898
        Protein_position: 300
        Exon_number: 7/15
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1p.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.998 probably_damaging
        HGVSc: C30D11.1p.1:c.1012G>A
        HGVSp: CE54336:p.Ala338Thr
        cDNA_position: 1012
        CDS_position: 1012
        Protein_position: 338
        Exon_number: 7/15
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1f.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.991 probably_damaging
        HGVSc: C30D11.1f.1:c.991G>A
        HGVSp: CE27805:p.Ala331Thr
        cDNA_position: 991
        CDS_position: 991
        Protein_position: 331
        Exon_number: 7/15
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1i.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.993 probably_damaging
        HGVSc: C30D11.1i.1:c.853G>A
        HGVSp: CE48274:p.Ala285Thr
        cDNA_position: 853
        CDS_position: 853
        Protein_position: 285
        Exon_number: 7/15
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.998 probably_damaging
        HGVSc: C30D11.1b.1:c.1081G>A
        HGVSp: CE41298:p.Ala361Thr
        cDNA_position: 1081
        CDS_position: 1081
        Protein_position: 361
        Exon_number: 7/15
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1o.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.904 possibly_damaging
        HGVSc: C30D11.1o.1:c.1021G>A
        HGVSp: CE54339:p.Ala341Thr
        cDNA_position: 1125
        CDS_position: 1021
        Protein_position: 341
        Exon_number: 8/16
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.998 probably_damaging
        HGVSc: C30D11.1d.1:c.1033G>A
        HGVSp: CE41300:p.Ala345Thr
        cDNA_position: 1033
        CDS_position: 1033
        Protein_position: 345
        Exon_number: 7/15
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1s.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 1 probably_damaging
        HGVSc: C30D11.1s.1:c.982G>A
        HGVSp: CE54333:p.Ala328Thr
        cDNA_position: 982
        CDS_position: 982
        Protein_position: 328
        Exon_number: 7/14
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1g.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 1 probably_damaging
        HGVSc: C30D11.1g.1:c.991G>A
        HGVSp: CE41302:p.Ala331Thr
        cDNA_position: 991
        CDS_position: 991
        Protein_position: 331
        Exon_number: 7/14
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1r.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.991 probably_damaging
        HGVSc: C30D11.1r.1:c.982G>A
        HGVSp: CE05338:p.Ala328Thr
        cDNA_position: 982
        CDS_position: 982
        Protein_position: 328
        Exon_number: 7/15
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
      C30D11.1n.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 1 probably_damaging
        HGVSc: C30D11.1n.1:c.898G>A
        HGVSp: CE54329:p.Ala300Thr
        cDNA_position: 898
        CDS_position: 898
        Protein_position: 300
        Exon_number: 7/14
        Codon_change: Gcc/Acc
        Amino_acid_change: A/T
  Genetics: Interpolated_map_position: III -3.78412
    Mapping_data: In_multi_point: 862
        2799
  Description: Phenotype: WBPhenotype:0000002 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: homozygote severe kinker, e1597/+ somewhat less severe kinker. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Variation_effect: Neomorph_gain_of_function: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000006 Paper_evidence: WBPaper00000914
          WBPaper00002305
        Curator_confirmed: WBPerson48
          WBPerson557
        Semi_dominant: Paper_evidence: WBPaper00000914
            WBPaper00002305
          Curator_confirmed: WBPerson48
            WBPerson557
      WBPhenotype:0000022 Paper_evidence: WBPaper00002305
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson557
        Remark: Muscle activation defective (long). Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Variation_effect: Neomorph_gain_of_function: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000153 Paper_evidence: WBPaper00002305
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson557
        Remark: Muscle activation defective (flaccid, long). Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Variation_effect: Neomorph_gain_of_function: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000164 Paper_evidence: WBPaper00000914
          WBPaper00043908
        Curator_confirmed: WBPerson48
          WBPerson2987
        Semi_dominant: Paper_evidence: WBPaper00000914
          Curator_confirmed: WBPerson48
      WBPhenotype:0000205 Paper_evidence: WBPaper00002305
        Curator_confirmed: WBPerson557
        Semi_dominant: Paper_evidence: WBPaper00002305
          Curator_confirmed: WBPerson557
      WBPhenotype:0000324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000349 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Muscle activation defective (flaccid). Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Variation_effect: Neomorph_gain_of_function: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000553 Paper_evidence: WBPaper00000914
        Curator_confirmed: WBPerson48
        Remark: body wall musculature shows weak and altered birefringence patterns Paper_evidence: WBPaper00000914
            Curator_confirmed: WBPerson48
        Semi_dominant: Paper_evidence: WBPaper00000914
          Curator_confirmed: WBPerson48
      WBPhenotype:0000640 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slight Egl Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Variation_effect: Neomorph_gain_of_function: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00002305
        Curator_confirmed: WBPerson557
      WBPhenotype:0000644 Paper_evidence: WBPaper00002305
        Curator_confirmed: WBPerson557
        Remark: Flaccid paralysis. Paper_evidence: WBPaper00002305
            Curator_confirmed: WBPerson557
      WBPhenotype:0000646 Paper_evidence: WBPaper00000914
        Curator_confirmed: WBPerson48
        Semi_dominant: Paper_evidence: WBPaper00000914
          Curator_confirmed: WBPerson48
      WBPhenotype:0001068 Paper_evidence: WBPaper00002305
        Curator_confirmed: WBPerson557
        Phenotype_assay: Treatment: Animals placed in serotonin (10 mg/ml). Paper_evidence: WBPaper00002305
              Curator_confirmed: WBPerson557
      WBPhenotype:0001101 Paper_evidence: WBPaper00002305
        Curator_confirmed: WBPerson557
        Remark: Animals resistant to egg laying caused by addition of clomipramine. Paper_evidence: WBPaper00002305
            Curator_confirmed: WBPerson557
        Phenotype_assay: Treatment: Animals placed in clomipramine (0.75 mg/ml). Paper_evidence: WBPaper00002305
              Curator_confirmed: WBPerson557
      WBPhenotype:0001213 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: little movement Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Semi_dominant: Person_evidence: WBPerson261
          Curator_confirmed: WBPerson712
        Variation_effect: Neomorph_gain_of_function: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001339 Paper_evidence: WBPaper00002305
        Curator_confirmed: WBPerson557
        Phenotype_assay: Treatment: Animals placed in levamisole (100 ug/ml). Paper_evidence: WBPaper00002305
              Curator_confirmed: WBPerson557
      WBPhenotype:0001340 Paper_evidence: WBPaper00002305
        Curator_confirmed: WBPerson557
        Phenotype_assay: Treatment: Animals placed in imipramine (0.75 mg/ml). Paper_evidence: WBPaper00002305
              Curator_confirmed: WBPerson557
      WBPhenotype:0001639 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002284 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002288 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002292 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002294 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002299 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002301 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002308 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002312 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002321 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002335 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002344 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002347 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004022 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004023 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
  Reference: WBPaper00015306
    WBPaper00017178
    WBPaper00040284
    WBPaper00041908
    WBPaper00043908
    WBPaper00027249
    WBPaper00000914
    WBPaper00027720
    WBPaper00002305
  Method: Substitution_allele