WormBase Tree Display for Variation: WBVar00088136

WBVar00088136 Name: Public_name: ju2
    Other_name: F35D2.5a.1:c.1471C>T
      CE33391:p.Arg491Ter
      F35D2.5c.2:c.673C>T
      F35D2.5c.1:c.673C>T
      CE33392:p.Arg225Ter
    HGVSg: CHROMOSOME_II:g.7588281G>A
  Sequence_details: SMap: S_parent: Sequence: R07G3
    Flanking_sequences: taaacttttttgttttcagagcaacaattt gattgtctaatggaagtccgggaagaactg
    Mapping_target: R07G3
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00005543
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CZ
    Status: Live
  Affects: Gene: WBGene00006363
    Transcript: F35D2.5c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F35D2.5c.1:c.673C>T
        HGVSp: CE33392:p.Arg225Ter
        cDNA_position: 676
        CDS_position: 673
        Protein_position: 225
        Exon_number: 6/11
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      F35D2.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F35D2.5a.1:c.1471C>T
        HGVSp: CE33391:p.Arg491Ter
        cDNA_position: 1475
        CDS_position: 1471
        Protein_position: 491
        Exon_number: 14/19
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      F35D2.5c.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F35D2.5c.2:c.673C>T
        HGVSp: CE33392:p.Arg225Ter
        cDNA_position: 1249
        CDS_position: 673
        Protein_position: 225
        Exon_number: 11/16
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor (20)
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00005543
  Genetics: Interpolated_map_position: II 0.504799
    Mapping_data: In_multi_point: 4715
  Description: Phenotype (5)
    Phenotype_not_observed: WBPhenotype:0000944 Paper_evidence: WBPaper00005543
        Curator_confirmed: WBPerson712
        Remark: Loss of syd-1 function causes morphologically normal axonal specializations to form in the dendritic processes of VDs, based on ultrastructural analysis of VD dorsal process presynaptic specializations and placement of postsynaptic muscle arm membranes. Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
      WBPhenotype:0002262 Paper_evidence: WBPaper00005543
        Curator_confirmed: WBPerson712
        Remark: postsynaptic localization of an AMPA-type glutamate receptor marker, GLR-1::GFP was unaltered. Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00005543
                Curator_confirmed: WBPerson712
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00005543
                Curator_confirmed: WBPerson712
  Reference: WBPaper00005543
  Remark: Flanking sequences refer to F35D2.5c isoform Curator_confirmed: WBPerson1845
  Method: Substitution_allele