WormBase Tree Display for Variation: WBVar00241264
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| 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 | WBPaper00039835 | |||||||
| WBPaper00040961 | ||||||||
| WBPaper00041212 | ||||||||
| WBPaper00041750 | ||||||||
| WBPaper00027283 | ||||||||
| WBPaper00005204 | ||||||||
| WBPaper00019108 | ||||||||
| WBPaper00027157 | ||||||||
| WBPaper00035965 | ||||||||
| WBPaper00019142 | ||||||||
| WBPaper00043917 | ||||||||
| WBPaper00045263 | ||||||||
| WBPaper00045028 | ||||||||
| WBPaper00047030 | ||||||||
| WBPaper00046760 | ||||||||
| WBPaper00049659 | ||||||||
| WBPaper00058699 | ||||||||
| WBPaper00062005 | ||||||||
| WBPaper00065007 | ||||||||
| WBPaper00064979 | ||||||||
| WBPaper00065307 | ||||||||
| WBPaper00065315 | ||||||||
| WBPaper00065803 | ||||||||
| WBPaper00065706 | ||||||||
| Method | Substitution_allele |
