WormBase Tree Display for Variation: WBVar00143294
expand all nodes | collapse all nodes | view schema
| WBVar00143294 | Evidence | Paper_evidence | WBPaper00005582 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | e553 | |||||
| Other_name (13) | |||||||
| HGVSg | CHROMOSOME_IV:g.5498450G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | B0273 | |||
| Flanking_sequences | ccaggtgttcgaagattacttttggagcat | aacatggaacattgctcggagagaaaatat | |||||
| Mapping_target | B0273 | ||||||
| Type_of_mutation | Substitution | c | t | ||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | CB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006745 | |||||
| Transcript | B0273.4f.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0273.4f.1:c.418C>T | ||||||
| HGVSp | CE49300:p.Gln140Ter | ||||||
| cDNA_position | 418 | ||||||
| CDS_position | 418 | ||||||
| Protein_position | 140 | ||||||
| Exon_number | 2/4 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| B0273.4e.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0273.4e.1:c.703C>T | ||||||
| HGVSp | CE49455:p.Gln235Ter | ||||||
| cDNA_position | 703 | ||||||
| CDS_position | 703 | ||||||
| Protein_position | 235 | ||||||
| Exon_number | 3/5 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| B0273.4c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0273.4c.1:c.1288C>T | ||||||
| HGVSp | CE16791:p.Gln430Ter | ||||||
| cDNA_position | 1288 | ||||||
| CDS_position | 1288 | ||||||
| Protein_position | 430 | ||||||
| Exon_number | 7/10 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| B0273.4a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0273.4a.1:c.1204C>T | ||||||
| HGVSp | CE16790:p.Gln402Ter | ||||||
| cDNA_position | 1206 | ||||||
| CDS_position | 1204 | ||||||
| Protein_position | 402 | ||||||
| Exon_number | 7/10 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| B0273.4d.2 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0273.4d.2:c.880C>T | ||||||
| HGVSp | CE49241:p.Gln294Ter | ||||||
| cDNA_position | 884 | ||||||
| CDS_position | 880 | ||||||
| Protein_position | 294 | ||||||
| Exon_number | 5/8 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| B0273.4b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0273.4b.1:c.1204C>T | ||||||
| HGVSp | CE37693:p.Gln402Ter | ||||||
| cDNA_position | 1204 | ||||||
| CDS_position | 1204 | ||||||
| Protein_position | 402 | ||||||
| Exon_number | 6/6 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| B0273.4d.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0273.4d.1:c.880C>T | ||||||
| HGVSp | CE49241:p.Gln294Ter | ||||||
| cDNA_position | 1083 | ||||||
| CDS_position | 880 | ||||||
| Protein_position | 294 | ||||||
| Exon_number | 6/9 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | IV | 1.75612 | ||||
| Description | Phenotype | WBPhenotype:0000565 | Person_evidence | WBPerson261 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | severe coiler, L1 also severe coiler, resembles e53 | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00005582 | ||||||
| Method | Substitution_allele |
