WormBase Tree Display for Variation: WBVar00000431

WBVar00000431 Evidence: Paper_evidence: WBPaper00004718
  Name: Public_name: b1047
    Other_name: W06H8.1i.1:c.76C>A
      W06H8.1e.1:c.250C>A
      CE52222:p.Arg79Ser
      CE31086:p.Arg42Ser
      W06H8.1a.1:c.769C>A
      W06H8.1b.1:c.769C>A
      CE25148:p.Arg60Ser
      W06H8.1f.1:c.76C>A
      CE52305:p.Arg26Ser
      W06H8.1g.1:c.235C>A
      CE52182:p.Arg79Ser
      W06H8.1d.1:c.124C>A
      W06H8.1h.1:c.235C>A
      W06H8.1f.3:c.76C>A
      CE25146:p.Arg257Ser
      W06H8.1f.4:c.76C>A
      CE33335:p.Arg26Ser
      CE30204:p.Arg84Ser
      W06H8.1f.2:c.76C>A
      CE52145:p.Arg257Ser
      W06H8.1c.1:c.178C>A
    HGVSg: CHROMOSOME_V:g.6214934C>A
  Sequence_details: SMap: S_parent: Sequence: W06H8
    Flanking_sequences: gaagttttggagacggtttccgaaggtctc gcaagatttacaagcagaaactcctgcctc
    Mapping_target: W06H8
    Type_of_mutation: Substitution: c a Paper_evidence: WBPaper00004718
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: DH
    Status: Live
  Affects: Gene: WBGene00004373
    Transcript: W06H8.1f.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.993 probably_damaging
        HGVSc: W06H8.1f.2:c.76C>A
        HGVSp: CE33335:p.Arg26Ser
        cDNA_position: 576
        CDS_position: 76
        Protein_position: 26
        Exon_number: 3/9
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
      W06H8.1i.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.932 possibly_damaging
        HGVSc: W06H8.1i.1:c.76C>A
        HGVSp: CE52305:p.Arg26Ser
        cDNA_position: 117
        CDS_position: 76
        Protein_position: 26
        Exon_number: 2/9
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
      W06H8.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.986 probably_damaging
        HGVSc: W06H8.1b.1:c.769C>A
        HGVSp: CE52145:p.Arg257Ser
        cDNA_position: 877
        CDS_position: 769
        Protein_position: 257
        Exon_number: 4/11
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
      W06H8.1f.4 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.993 probably_damaging
        HGVSc: W06H8.1f.4:c.76C>A
        HGVSp: CE33335:p.Arg26Ser
        cDNA_position: 151
        CDS_position: 76
        Protein_position: 26
        Exon_number: 3/9
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
      W06H8.1c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.962 probably_damaging
        HGVSc: W06H8.1c.1:c.178C>A
        HGVSp: CE25148:p.Arg60Ser
        cDNA_position: 178
        CDS_position: 178
        Protein_position: 60
        Exon_number: 2/7
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
      W06H8.1h.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.993 probably_damaging
        HGVSc: W06H8.1h.1:c.235C>A
        HGVSp: CE52222:p.Arg79Ser
        cDNA_position: 235
        CDS_position: 235
        Protein_position: 79
        Exon_number: 2/7
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
      W06H8.1e.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.962 probably_damaging
        HGVSc: W06H8.1e.1:c.250C>A
        HGVSp: CE30204:p.Arg84Ser
        cDNA_position: 266
        CDS_position: 250
        Protein_position: 84
        Exon_number: 3/8
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
      W06H8.1g.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.962 probably_damaging
        HGVSc: W06H8.1g.1:c.235C>A
        HGVSp: CE52182:p.Arg79Ser
        cDNA_position: 235
        CDS_position: 235
        Protein_position: 79
        Exon_number: 2/8
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
      W06H8.1d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.962 probably_damaging
        HGVSc: W06H8.1d.1:c.124C>A
        HGVSp: CE31086:p.Arg42Ser
        cDNA_position: 124
        CDS_position: 124
        Protein_position: 42
        Exon_number: 2/8
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
      W06H8.1f.3 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.993 probably_damaging
        HGVSc: W06H8.1f.3:c.76C>A
        HGVSp: CE33335:p.Arg26Ser
        cDNA_position: 168
        CDS_position: 76
        Protein_position: 26
        Exon_number: 3/9
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
      W06H8.1f.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.993 probably_damaging
        HGVSc: W06H8.1f.1:c.76C>A
        HGVSp: CE33335:p.Arg26Ser
        cDNA_position: 108
        CDS_position: 76
        Protein_position: 26
        Exon_number: 2/8
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
      W06H8.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.02 deleterious
        PolyPhen: 0.993 probably_damaging
        HGVSc: W06H8.1a.1:c.769C>A
        HGVSp: CE25146:p.Arg257Ser
        cDNA_position: 946
        CDS_position: 769
        Protein_position: 257
        Exon_number: 4/10
        Codon_change: Cgc/Agc
        Amino_acid_change: R/S
  Genetics: Interpolated_map_position: V -0.208551
  Reference: WBPaper00004718
  Method: Substitution_allele