WormBase Tree Display for Variation: WBVar00095096

WBVar00095096 Evidence: Paper_evidence: WBPaper00006369
  Name: Public_name: oz231
    Other_name: Y53C12B.3e.1:c.931_1069del
      Y53C12B.3d.1:c.1324_1462del
      CE19224:p.Gln424TyrfsTer40
      Y53C12B.3a.1:c.1270_1408del
      CE54300:p.Gln311TyrfsTer40
      Y53C12B.3c.1:c.1333_1471del
      CE54262:p.Gln445TyrfsTer40
      Y53C12B.3b.1:c.1279_1417del
      CE18413:p.Gln427TyrfsTer40
      CE54289:p.Gln442TyrfsTer40
    HGVSg: CHROMOSOME_II:g.9748434_9748572del
  Sequence_details: SMap: S_parent: Sequence: Y53C12B
    Flanking_sequences: gaacaaacaacaattcctcagatgtttcag taccgcaacaatatatgcaaatggttccgc
    Mapping_target: Y53C12B
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: BS
    Status: Live
  Affects: Gene: WBGene00003785
    Transcript: Y53C12B.3e.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: Y53C12B.3e.1:c.931_1069del
        HGVSp: CE54300:p.Gln311TyrfsTer40
        cDNA_position: 931-1069
        CDS_position: 931-1069
        Protein_position: 311-357
        Exon_number: 4/6
        Codon_change: CAAATGCAACCATACGGAATGCCACAAGGAGGCCCACCACCACCTCATGCTGCTGCTTCTATGATGAATCATCCCCATCAGCAAAATCATCCTCATATGAATGCACAAATGACCCAACAACAGCATCCAGGACAATATCta/ta
        Amino_acid_change: QMQPYGMPQGGPPPPHAAASMMNHPHQQNHPHMNAQMTQQQHPGQYL/X
      Y53C12B.3d.1 VEP_consequence: frameshift_variant,splice_region_variant
        VEP_impact: HIGH
        HGVSc: Y53C12B.3d.1:c.1324_1462del
        HGVSp: CE54289:p.Gln442TyrfsTer40
        cDNA_position: 1324-1462
        CDS_position: 1324-1462
        Protein_position: 442-488
        Exon_number: 6/9
        Codon_change: CAAATGCAACCATACGGAATGCCACAAGGAGGCCCACCACCACCTCATGCTGCTGCTTCTATGATGAATCATCCCCATCAGCAAAATCATCCTCATATGAATGCACAAATGACCCAACAACAGCATCCAGGACAATATCta/ta
        Amino_acid_change: QMQPYGMPQGGPPPPHAAASMMNHPHQQNHPHMNAQMTQQQHPGQYL/X
      Y53C12B.3b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: Y53C12B.3b.1:c.1279_1417del
        HGVSp: CE18413:p.Gln427TyrfsTer40
        cDNA_position: 1298-1436
        CDS_position: 1279-1417
        Protein_position: 427-473
        Exon_number: 6/9
        Codon_change: CAAATGCAACCATACGGAATGCCACAAGGAGGCCCACCACCACCTCATGCTGCTGCTTCTATGATGAATCATCCCCATCAGCAAAATCATCCTCATATGAATGCACAAATGACCCAACAACAGCATCCAGGACAATATCta/ta
        Amino_acid_change: QMQPYGMPQGGPPPPHAAASMMNHPHQQNHPHMNAQMTQQQHPGQYL/X
      Y53C12B.3c.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: Y53C12B.3c.1:c.1333_1471del
        HGVSp: CE54262:p.Gln445TyrfsTer40
        cDNA_position: 1484-1622
        CDS_position: 1333-1471
        Protein_position: 445-491
        Exon_number: 7/10
        Codon_change: CAAATGCAACCATACGGAATGCCACAAGGAGGCCCACCACCACCTCATGCTGCTGCTTCTATGATGAATCATCCCCATCAGCAAAATCATCCTCATATGAATGCACAAATGACCCAACAACAGCATCCAGGACAATATCta/ta
        Amino_acid_change: QMQPYGMPQGGPPPPHAAASMMNHPHQQNHPHMNAQMTQQQHPGQYL/X
      Y53C12B.3a.1 VEP_consequence: frameshift_variant,splice_region_variant
        VEP_impact: HIGH
        HGVSc: Y53C12B.3a.1:c.1270_1408del
        HGVSp: CE19224:p.Gln424TyrfsTer40
        cDNA_position: 1302-1440
        CDS_position: 1270-1408
        Protein_position: 424-470
        Exon_number: 6/9
        Codon_change: CAAATGCAACCATACGGAATGCCACAAGGAGGCCCACCACCACCTCATGCTGCTGCTTCTATGATGAATCATCCCCATCAGCAAAATCATCCTCATATGAATGCACAAATGACCCAACAACAGCATCCAGGACAATATCta/ta
        Amino_acid_change: QMQPYGMPQGGPPPPHAAASMMNHPHQQNHPHMNAQMTQQQHPGQYL/X
    Interactor: WBInteraction000501965
      WBInteraction000504883
  Genetics: Interpolated_map_position: II 1.70864
  Reference: WBPaper00006369
  Remark: 139bp deletion which changes the reading frame, therefore adding a further 39 amino acids before encountering a stop codon Paper_evidence: WBPaper00006369
  Method: Deletion_allele