WormBase Tree Display for Variation: WBVar00242477
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| WBVar00242477 | Evidence | Paper_evidence | WBPaper00006314 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | sa47 | |||||
| Other_name (50) | |||||||
| HGVSg | CHROMOSOME_V:g.22663C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | B0348 | |||
| Flanking_sequences | aaagacggccgaattatgttcgaattggag | agcgcggagccagcgaaacgatagctgaac | |||||
| Mapping_target | B0348 | ||||||
| Type_of_mutation | Substitution | c | t | ||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00022776 | ||||||
| Laboratory | JT | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00001177 | |||||
| Transcript | B0348.4r.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4r.1:c.253C>T | ||||||
| HGVSp | CE50591:p.Gln85Ter | ||||||
| cDNA_position | 253 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 2/20 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4o.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4o.1:c.253C>T | ||||||
| HGVSp | CE50539:p.Gln85Ter | ||||||
| cDNA_position | 437 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/22 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4v.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4v.1:c.253C>T | ||||||
| HGVSp | CE50633:p.Gln85Ter | ||||||
| cDNA_position | 435 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/21 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4x.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4x.1:c.253C>T | ||||||
| HGVSp | CE50556:p.Gln85Ter | ||||||
| cDNA_position | 253 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 2/18 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4j.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4j.1:c.253C>T | ||||||
| HGVSp | CE50563:p.Gln85Ter | ||||||
| cDNA_position | 441 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/22 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4t.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4t.1:c.253C>T | ||||||
| HGVSp | CE50660:p.Gln85Ter | ||||||
| cDNA_position | 253 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 2/19 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4d.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4d.1:c.253C>T | ||||||
| HGVSp | CE50594:p.Gln85Ter | ||||||
| cDNA_position | 253 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 2/23 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4e.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4e.1:c.253C>T | ||||||
| HGVSp | CE50648:p.Gln85Ter | ||||||
| cDNA_position | 253 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 2/22 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4n.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4n.1:c.253C>T | ||||||
| HGVSp | CE50580:p.Gln85Ter | ||||||
| cDNA_position | 388 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/22 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4q.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4q.1:c.253C>T | ||||||
| HGVSp | CE50603:p.Gln85Ter | ||||||
| cDNA_position | 441 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/21 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4c.1:c.253C>T | ||||||
| HGVSp | CE36909:p.Gln85Ter | ||||||
| cDNA_position | 441 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/12 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4l.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4l.1:c.253C>T | ||||||
| HGVSp | CE50619:p.Gln85Ter | ||||||
| cDNA_position | 441 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/21 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4f.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4f.1:c.253C>T | ||||||
| HGVSp | CE50546:p.Gln85Ter | ||||||
| cDNA_position | 435 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/23 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4k.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4k.1:c.253C>T | ||||||
| HGVSp | CE50665:p.Gln85Ter | ||||||
| cDNA_position | 439 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/21 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4b.1:c.253C>T | ||||||
| HGVSp | CE30589:p.Gln85Ter | ||||||
| cDNA_position | 435 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/23 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4m.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4m.1:c.253C>T | ||||||
| HGVSp | CE50547:p.Gln85Ter | ||||||
| cDNA_position | 441 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/20 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4w.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4w.1:c.253C>T | ||||||
| HGVSp | CE50590:p.Gln85Ter | ||||||
| cDNA_position | 253 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 2/18 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4p.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4p.1:c.253C>T | ||||||
| HGVSp | CE50649:p.Gln85Ter | ||||||
| cDNA_position | 253 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 2/20 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4y.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4y.1:c.253C>T | ||||||
| HGVSp | CE50664:p.Gln85Ter | ||||||
| cDNA_position | 253 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 2/17 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4s.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4s.1:c.253C>T | ||||||
| HGVSp | CE50564:p.Gln85Ter | ||||||
| cDNA_position | 423 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/21 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4g.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4g.1:c.253C>T | ||||||
| HGVSp | CE50641:p.Gln85Ter | ||||||
| cDNA_position | 441 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/22 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4u.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4u.1:c.253C>T | ||||||
| HGVSp | CE50618:p.Gln85Ter | ||||||
| cDNA_position | 416 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/20 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4i.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4i.1:c.253C>T | ||||||
| HGVSp | CE50597:p.Gln85Ter | ||||||
| cDNA_position | 441 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/21 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4h.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4h.1:c.253C>T | ||||||
| HGVSp | CE50604:p.Gln85Ter | ||||||
| cDNA_position | 442 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/22 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| B0348.4a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0348.4a.1:c.253C>T | ||||||
| HGVSp | CE30588:p.Gln85Ter | ||||||
| cDNA_position | 435 | ||||||
| CDS_position | 253 | ||||||
| Protein_position | 85 | ||||||
| Exon_number | 3/22 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| Interactor | WBInteraction000520794 | ||||||
| Genetics | Interpolated_map_position | V | -20.038 | ||||
| Description | Phenotype | WBPhenotype:0000207 | Paper_evidence | WBPaper00056479 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | no to little defecation motor program frequency observed | Paper_evidence | WBPaper00056479 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00006314 | ||||||
| WBPaper00056479 | |||||||
| WBPaper00065282 | |||||||
| Method | Substitution_allele |
