WormBase Tree Display for Variation: WBVar00248762
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WBVar00248762 | Evidence | Paper_evidence | WBPaper00005261 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | st551 | |||||||
Other_name | C29F9.7.1:c.170G>A | ||||||||
CE19706:p.Trp57Ter | |||||||||
HGVSg | CHROMOSOME_III:g.94072C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | C29F9 | |||||
Flanking_sequences | gagacgatcacgccttctcactgctccact | ggccgcgaagggcggccacgtggcgattgc | |||||||
Mapping_target | C29F9 | ||||||||
Type_of_mutation | Substitution | g | a | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00033521 | ||||||||
WBStrain00040330 | |||||||||
Laboratory | RW | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00003931 | |||||||
Transcript | C29F9.7.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | C29F9.7.1:c.170G>A | ||||||||
HGVSp | CE19706:p.Trp57Ter | ||||||||
cDNA_position | 176 | ||||||||
CDS_position | 170 | ||||||||
Protein_position | 57 | ||||||||
Exon_number | 3/10 | ||||||||
Codon_change | tGg/tAg | ||||||||
Amino_acid_change | W/* | ||||||||
Interactor | WBInteraction000502990 | ||||||||
WBInteraction000557574 | |||||||||
WBInteraction000557575 | |||||||||
WBInteraction000557576 | |||||||||
WBInteraction000557577 | |||||||||
WBInteraction000558144 | |||||||||
Genetics | Interpolated_map_position | III | -26.9857 | ||||||
Mapping_data | In_multi_point | 3017 | |||||||
Description | Phenotype | WBPhenotype:0000053 | Paper_evidence | WBPaper00001894 | |||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
Remark | Severe Pat phenotype: Embryos are paralyzed at the 1.5-fold stage. | Paper_evidence | WBPaper00001894 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
severe Pat phenotype; all similar to st552 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000015 | PATO:0000460 | Paper_evidence | WBPaper00001894 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001569 | Paper_evidence | WBPaper00001894 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | MhcA does not form normal A-bands. | Paper_evidence | WBPaper00001894 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006804 | PATO:0000460 | Paper_evidence | WBPaper00001894 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Life_stage | WBls:0000015 | PATO:0000460 | Paper_evidence | WBPaper00001894 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Treatment | antibody staining with anti-mhcA | Paper_evidence | WBPaper00001894 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00027228 | ||||||||
WBPaper00001894 | |||||||||
WBPaper00014049 | |||||||||
WBPaper00015577 | |||||||||
Method | Substitution_allele |