WormBase Tree Display for Variation: WBVar00143395
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| WBVar00143395 | Evidence | Paper_evidence | WBPaper00000779 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | e675 | |||||||
| Other_name | CE09349:p.Ala1474_Glu1563del | ||||||||
| F11C3.3.1:c.4419_4688del | |||||||||
| HGVSg | CHROMOSOME_I:g.14857540_14857809del | ||||||||
| Sequence_details | SMap | S_parent | Sequence | F32A7 | |||||
| Flanking_sequences | cgaatggagaaagaagaccgacgacttggc | agagagcaaggttctccgcgcccaggttga | |||||||
| Mapping_target | F32A7 | ||||||||
| Type_of_mutation | Deletion | ||||||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00004195 | ||||||||
| WBStrain00006193 | |||||||||
| WBStrain00006245 | |||||||||
| Laboratory | CB | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00006789 | |||||||
| Transcript | F11C3.3.1 | VEP_consequence | inframe_deletion | ||||||
| VEP_impact | MODERATE | ||||||||
| HGVSc | F11C3.3.1:c.4419_4688del | ||||||||
| HGVSp | CE09349:p.Ala1474_Glu1563del | ||||||||
| cDNA_position | 4451-4720 | ||||||||
| CDS_position | 4419-4688 | ||||||||
| Protein_position | 1473-1563 | ||||||||
| Exon_number | 7/11 | ||||||||
| Codon_change | gcCGCTGAGCTTGATGGAGCTCAACGCGACCTTCGCAACACCTCCACTGATCTCTTCAAGGCCAAGAACGCCCAAGAGGAGCTCGCCGAGGTTGTTGAGGGACTCCGCCGTGAGAACAAGAGCTTGAGCCAAGAGATCAAGGATCTTACCGATCAACTCGGAGAGGGAGGACGCTCTGTCCACGAAATGCAAAAGATCATCCGCCGTCTTGAGATTGAGAAGGAAGAACTCCAACACGCTTTGGACGAGGCTGAGGCTGCCCTTGAAGCTGAa/gca | ||||||||
| Amino_acid_change | AAELDGAQRDLRNTSTDLFKAKNAQEELAEVVEGLRRENKSLSQEIKDLTDQLGEGGRSVHEMQKIIRRLEIEKEELQHALDEAEAALEAE/A | ||||||||
| Isolation | Mutagen | EMS | Paper_evidence | WBPaper00000779 | |||||
| Genetics | Interpolated_map_position | I | 27.9602 | ||||||
| Mapping_data | In_2_point | 6106 | |||||||
| Description | Phenotype | WBPhenotype:0000422 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | slight twitchers | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Penetrance | Incomplete | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Semi_dominant | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000509 | Paper_evidence | WBPaper00000536 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Only 0.4% of sperm have pseudopods, all of which have normal morphology. | Paper_evidence | WBPaper00000536 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006798 | PATO:0000460 | Paper_evidence | WBPaper00000536 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000644 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | almost paralysed | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Penetrance | Incomplete | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Semi_dominant | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference (13) | |||||||||
| Method | Deletion_allele |
