WormBase Tree Display for Variation: WBVar00143839
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WBVar00143839 | Evidence | Paper_evidence | WBPaper00046489 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | e1216 | |||||||
Other_name (4) | |||||||||
HGVSg | CHROMOSOME_I:g.6764591C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | F08B6 | |||||
Flanking_sequences | taacactcgtgtcaagtctgagaaccttca | gtatggaaattttatggtcagatttacttg | |||||||
Mapping_target | F08B6 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00046489 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00004273 | ||||||||
WBStrain00006264 | |||||||||
Laboratory | CB | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00006819 | |||||||
Transcript | F08B6.4b.1 | VEP_consequence | splice_region_variant,synonymous_variant | ||||||
VEP_impact | LOW | ||||||||
HGVSc | F08B6.4b.1:c.240G>A | ||||||||
HGVSp | CE27922:p.Gln80= | ||||||||
cDNA_position | 247 | ||||||||
CDS_position | 240 | ||||||||
Protein_position | 80 | ||||||||
Exon_number | 3/8 | ||||||||
Codon_change | caG/caA | ||||||||
Amino_acid_change | Q | ||||||||
F08B6.4a.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||||||
VEP_impact | LOW | ||||||||
HGVSc | F08B6.4a.1:c.813G>A | ||||||||
HGVSp | CE20658:p.Gln271= | ||||||||
cDNA_position | 893 | ||||||||
CDS_position | 813 | ||||||||
Protein_position | 271 | ||||||||
Exon_number | 3/8 | ||||||||
Codon_change | caG/caA | ||||||||
Amino_acid_change | Q | ||||||||
Interactor | WBInteraction000009172 | ||||||||
WBInteraction000009173 | |||||||||
Genetics | Interpolated_map_position | I | 1.31316 | ||||||
Mapping_data | In_pos_neg_data | 5351 | |||||||
6549 | |||||||||
6580 | |||||||||
Description | Phenotype | WBPhenotype:0000349 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | limp paralysed | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000509 | Paper_evidence | WBPaper00000536 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Less than 5% 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:0000553 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | abnormal body muscle birefringence | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000640 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | somewhat Egl | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000644 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | limp paralysed | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Ease_of_scoring | ES3_Easy_to_score (2) | ||||||||
WBPhenotype:0000646 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | very sluggish | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000781 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | thin filaments in small bundles | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000904 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | abnormal body muscle ultrastructure | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00000536 | ||||||||
WBPaper00013649 | |||||||||
WBPaper00013682 | |||||||||
WBPaper00046489 | |||||||||
Method | Substitution_allele |