WormBase Tree Display for Variation: WBVar00143839

WBVar00143839 Evidence: Paper_evidence: WBPaper00046489
  Name: Public_name: e1216
    Other_name: F08B6.4b.1:c.240G>A
      F08B6.4a.1:c.813G>A
      CE20658:p.Gln271=
      CE27922:p.Gln80=
    HGVSg: CHROMOSOME_I:g.6764591C>T
  Sequence_details: SMap: S_parent: Sequence: F08B6
    Flanking_sequences: taacactcgtgtcaagtctgagaaccttca gtatggaaattttatggtcagatttacttg
    Mapping_target: F08B6
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00046489
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004273
      WBStrain00006264
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006819
    Transcript: F08B6.4b.1 VEP_consequence: splice_region_variant,synonymous_variant
        VEP_impact: LOW
        HGVSc: F08B6.4b.1:c.240G>A
        HGVSp: CE27922:p.Gln80=
        cDNA_position: 247
        CDS_position: 240
        Protein_position: 80
        Exon_number: 3/8
        Codon_change: caG/caA
        Amino_acid_change: Q
      F08B6.4a.1 VEP_consequence: splice_region_variant,synonymous_variant
        VEP_impact: LOW
        HGVSc: F08B6.4a.1:c.813G>A
        HGVSp: CE20658:p.Gln271=
        cDNA_position: 893
        CDS_position: 813
        Protein_position: 271
        Exon_number: 3/8
        Codon_change: caG/caA
        Amino_acid_change: Q
    Interactor: WBInteraction000009172
      WBInteraction000009173
  Genetics: Interpolated_map_position: I 1.31316
    Mapping_data: In_pos_neg_data: 5351
        6549
        6580
  Description: Phenotype: WBPhenotype:0000349 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: limp paralysed Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000509 Paper_evidence: WBPaper00000536
        Curator_confirmed: WBPerson712
        Remark: Less than 5% of sperm have pseudopods, all of which have normal morphology. Paper_evidence: WBPaper00000536
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006798 PATO:0000460 Paper_evidence: WBPaper00000536
                Curator_confirmed: WBPerson712
      WBPhenotype:0000553 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal body muscle birefringence Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000640 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: somewhat Egl Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000644 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: limp paralysed Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: very sluggish Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000781 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: thin filaments in small bundles Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000904 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal body muscle ultrastructure Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00000536
    WBPaper00013649
    WBPaper00013682
    WBPaper00046489
  Method: Substitution_allele