WormBase Tree Display for Variation: WBVar02144112
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| WBVar02144112 | Evidence | Paper_evidence | WBPaper00046585 | ||||
|---|---|---|---|---|---|---|---|
| Person_evidence | WBPerson105 | ||||||
| Name | Public_name | e3016 | |||||
| Other_name | BE10.2.2:c.372G>T | ||||||
| BE10.2.1:c.372G>T | |||||||
| CE30592:p.Cys124= | |||||||
| HGVSg | CHROMOSOME_III:g.12797447C>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | BE10 | |||
| Flanking_sequences | CAGGCAAAAAATCCATGTCCACGGGGAATC | CATGGAAGTTCTAATATTCGCCAGTTATCC | |||||
| Mapping_target | BE10 | ||||||
| Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00046585 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00024123 | ||||||
| Laboratory | CB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00007210 | |||||
| Transcript | BE10.2.2 | VEP_consequence | synonymous_variant | ||||
| VEP_impact | LOW | ||||||
| HGVSc | BE10.2.2:c.372G>T | ||||||
| HGVSp | CE30592:p.Cys124= | ||||||
| cDNA_position | 532 | ||||||
| CDS_position | 372 | ||||||
| Protein_position | 124 | ||||||
| Exon_number | 5/11 | ||||||
| Codon_change | tgC/tgT | ||||||
| Amino_acid_change | C | ||||||
| BE10.2.1 | VEP_consequence | synonymous_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | BE10.2.1:c.372G>T | ||||||
| HGVSp | CE30592:p.Cys124= | ||||||
| cDNA_position | 410 | ||||||
| CDS_position | 372 | ||||||
| Protein_position | 124 | ||||||
| Exon_number | 4/10 | ||||||
| Codon_change | tgC/tgT | ||||||
| Amino_acid_change | C | ||||||
| Isolation | Mutagen | EMS | |||||
| Genetics | Interpolated_map_position | III | 18.9767 | ||||
| Description | Phenotype | WBPhenotype:0001918 | Paper_evidence | WBPaper00052991 | |||
| Curator_confirmed | WBPerson38714 | ||||||
| Reference | WBPaper00046585 | ||||||
| WBPaper00052991 | |||||||
| Remark | Corrected in WS291 based on correction received by email: "Please correct the mutation from WGG -> WGA at W130 to W124 -- it is exactly 18 bp upstream." | Person_evidence | WBPerson384 | ||||
| Curator_confirmed | WBPerson51134 | ||||||
| The e3016 mutation was reported as causing W130opal in Loer et al 2016, however this was inaccurate due to a change in WGS base numbering. This is the corrected change, as agreed with C. Loer and J. Hodgkin. | Person_evidence | WBPerson105 | |||||
| Curator_confirmed | WBPerson51134 | ||||||
| alt_det = TGG > TGA mut_det = causes W124opal | Person_evidence | WBPerson105 | |||||
| Curator_confirmed | WBPerson51134 | ||||||
| Variation information submitted by WBPerson105 on 2023-11-21_08:42:50 via the Allele submission form. | Curator_confirmed | WBPerson51134 | |||||
| Method | Substitution_allele |
