WormBase Tree Display for Variation: WBVar00094710
expand all nodes | collapse all nodes | view schema
| WBVar00094710 | Evidence | Paper_evidence | WBPaper00030897 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | or283 | |||||||
| Other_name | T21E12.4b.1:c.6803C>T | ||||||||
| CE23997:p.Ser3200Leu | |||||||||
| CE51690:p.Ser2268Leu | |||||||||
| T21E12.4a.1:c.9599C>T | |||||||||
| HGVSg | CHROMOSOME_I:g.4397405C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | T21E12 | |||||
| Flanking_sequences | aacagaaggctgaagaagagaagaagttct | ggagcaattgcagaaggagctcgcagagca | |||||||
| Mapping_target | T21E12 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00030897 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00007360 | ||||||||
| Laboratory | EU | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00000962 | |||||||
| Transcript | T21E12.4a.1 | VEP_consequence | missense_variant | ||||||
| VEP_impact | MODERATE | ||||||||
| HGVSc | T21E12.4a.1:c.9599C>T | ||||||||
| HGVSp | CE23997:p.Ser3200Leu | ||||||||
| cDNA_position | 9604 | ||||||||
| CDS_position | 9599 | ||||||||
| Protein_position | 3200 | ||||||||
| Exon_number | 11/17 | ||||||||
| Codon_change | tCg/tTg | ||||||||
| Amino_acid_change | S/L | ||||||||
| T21E12.4b.1 | VEP_consequence | missense_variant | |||||||
| VEP_impact | MODERATE | ||||||||
| HGVSc | T21E12.4b.1:c.6803C>T | ||||||||
| HGVSp | CE51690:p.Ser2268Leu | ||||||||
| cDNA_position | 6803 | ||||||||
| CDS_position | 6803 | ||||||||
| Protein_position | 2268 | ||||||||
| Exon_number | 7/12 | ||||||||
| Codon_change | tCg/tTg | ||||||||
| Amino_acid_change | S/L | ||||||||
| Interactor (48) | |||||||||
| Genetics | Interpolated_map_position | I | -1.31005 | ||||||
| Description | Phenotype | WBPhenotype:0000050 | Paper_evidence | WBPaper00030897 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Recessive | Paper_evidence | WBPaper00030897 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00030897 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Temperature_sensitive | Heat_sensitive | 23 | Paper_evidence | WBPaper00030897 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Treatment | L1 larvae were grown on L4440 control dsRNA-expressing bacterial strains at different temperatures. | Paper_evidence | WBPaper00030897 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000633 | Paper_evidence | WBPaper00045955 | ||||||
| Curator_confirmed | WBPerson557 | ||||||||
| Remark | Animals did not have PLM branch defects. | Paper_evidence | WBPaper00045955 | ||||||
| Curator_confirmed | WBPerson557 | ||||||||
| Reference | WBPaper00030897 | ||||||||
| WBPaper00045955 | |||||||||
| Method | Substitution_allele |
