WormBase Tree Display for Variation: WBVar00088454

WBVar00088454 Evidence: Paper_evidence: WBPaper00028384
  Name: Public_name: ky616
    Other_name: Y38F2AL.1.3:c.104C>T
      Y38F2AL.1.1:c.104C>T
      Y38F2AL.1.2:c.104C>T
      CE42187:p.Ser35Phe
    HGVSg: CHROMOSOME_IV:g.2324167C>T
  Sequence_details: SMap: S_parent: Sequence: Y38F2AL
    Flanking_sequences: ggctctcaatcgccgcaattctcacaccct ctggcaaatcgtaaaccttcgcgagtatgg
    Mapping_target: Y38F2AL
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00028384
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005274
    Laboratory: CX
    Status: Live
  Affects: Gene: WBGene00021415
    Transcript: Y38F2AL.1.3 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y38F2AL.1.3:c.104C>T
        HGVSp: CE42187:p.Ser35Phe
        cDNA_position: 116
        CDS_position: 104
        Protein_position: 35
        Exon_number: 2/8
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
      Y38F2AL.1.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y38F2AL.1.2:c.104C>T
        HGVSp: CE42187:p.Ser35Phe
        cDNA_position: 209
        CDS_position: 104
        Protein_position: 35
        Exon_number: 3/9
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
      Y38F2AL.1.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y38F2AL.1.1:c.104C>T
        HGVSp: CE42187:p.Ser35Phe
        cDNA_position: 110
        CDS_position: 104
        Protein_position: 35
        Exon_number: 2/8
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
    Interactor: WBInteraction000052103
  Genetics: Interpolated_map_position: IV -7.98569
  Description: Phenotype: WBPhenotype:0001512 Paper_evidence: WBPaper00029404
        Curator_confirmed: WBPerson712
        Remark: Animals do not express str-2::GFP in either AWC cell, e.g. both AWC neurons are AWC off (n=94). Overexpression of nsy-4 rescued AWCL more efficiently than AWCR Paper_evidence: WBPaper00029404
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00029404
              Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00029404
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005832 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
            WBbt:0005833 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
            WBbt:0003827 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
            WBbt:0003826 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: str-2::GFP Paper_evidence: WBPaper00029404
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000717 Paper_evidence: WBPaper00029404
        Curator_confirmed: WBPerson712
        Remark: NSY-5::GFP expression was unaltered (data not shown). Paper_evidence: WBPaper00029404
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: NSY-5::GFP Paper_evidence: WBPaper00029404
              Curator_confirmed: WBPerson712
  Reference: WBPaper00029404
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00021415 Missense 35 S to F Paper_evidence: WBPaper00028384
  Method: Substitution_allele