WormBase Tree Display for Variation: WBVar00241264

WBVar00241264 Evidence: Paper_evidence: WBPaper00005204
  Name: Public_name: qm150
    Other_name: CE17071:p.Pro225Ser
      F42G8.12.1:c.673C>T
    HGVSg: CHROMOSOME_IV:g.8134970G>A
  Sequence_details: SMap: S_parent: Sequence: F42G8
    Flanking_sequences: attggagtgtgcacccatcttggatgtgtc caattggtatgcagtcttttttctcctgaa
    Mapping_target: F42G8
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026669
      WBStrain00026670
      WBStrain00026672
      WBStrain00026674
      WBStrain00052465
    Laboratory: MQ
    Status: Live
  Linked_to: WBVar02146353
    WBVar02146354
    WBVar02146355
    WBVar02146356
    WBVar02146357
    WBVar02146358
    WBVar02146359
    WBVar02146360
  Affects: Gene: WBGene00002162
    Transcript: F42G8.12.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F42G8.12.1:c.673C>T
        HGVSp: CE17071:p.Pro225Ser
        cDNA_position: 688
        CDS_position: 673
        Protein_position: 225
        Exon_number: 7/10
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
    Interactor (45)
  Genetics: Interpolated_map_position: IV 3.6222
    Mapping_data: In_multi_point: 4448
  Description: Phenotype (11)
    Phenotype_not_observed: WBPhenotype:0000727 Paper_evidence: WBPaper00041750
        Curator_confirmed: WBPerson2987
        Remark: Dihydrolipoamide dehydrogenase (DLD) enzyme activity was unaffected by the isp-1(qm150) mutation (Figure 2G) Paper_evidence: WBPaper00041750
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: DLD activity in whole-worm extracts was determined spectrophotometrically, exactly as previously described (Bhaskaran et al., 2011). Paper_evidence: WBPaper00041750
              Curator_confirmed: WBPerson2987
  Reference (24)
  Method: Substitution_allele