WormBase Tree Display for Variation: WBVar00248850
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| WBVar00248850 | Evidence | Paper_evidence | WBPaper00006358 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | su142 | |||||
| Other_name | su142sd | ||||||
| CE40008:p.Gln122Ter | |||||||
| ZK721.2.1:c.364C>T | |||||||
| HGVSg | CHROMOSOME_X:g.8789870C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | ZK721 | |||
| Flanking_sequences | gagaagtacgacatcaactacgtcgtctcc | agactgaggctgagatcaactccctcacta | |||||
| Mapping_target | ZK721 | ||||||
| Type_of_mutation | Substitution | c | t | ||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00008392 | ||||||
| Laboratory | HE | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006764 | |||||
| Transcript | ZK721.2.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK721.2.1:c.364C>T | ||||||
| HGVSp | CE40008:p.Gln122Ter | ||||||
| cDNA_position | 364 | ||||||
| CDS_position | 364 | ||||||
| Protein_position | 122 | ||||||
| Exon_number | 2/6 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | X | 0.394849 | ||||
| Mapping_data | In_2_point | 3659 | |||||
| 3669 | |||||||
| In_multi_point | 1347 | ||||||
| In_pos_neg_data | 939 | ||||||
| 1838 | |||||||
| 1842 | |||||||
| Description | Phenotype | WBPhenotype:0000553 | Person_evidence | WBPerson261 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | abnormal faint muscle birefringence | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Semi_dominant | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000644 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | almost paralysed | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Semi_dominant | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000646 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | very slow | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Semi_dominant | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000926 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | abnormal muscle ultrastructure, collections of thick or thin filaments | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Semi_dominant | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Phenotype_not_observed | WBPhenotype:0000640 | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | can lay eggs | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0001645 | Paper_evidence | WBPaper00040284 | |||||
| Curator_confirmed | WBPerson2987 | ||||||
| Remark | Table S2 | Paper_evidence | WBPaper00040284 | ||||
| Curator_confirmed | WBPerson2987 | ||||||
| Reference | WBPaper00040284 | ||||||
| WBPaper00018466 | |||||||
| WBPaper00023023 | |||||||
| Method | Substitution_allele |
