WormBase Tree Display for Variation: WBVar00143945
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WBVar00143945 | Evidence | Paper_evidence | WBPaper00002847 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e1365 | ||||||
Other_name | Y55D5A.5e.1:c.1510G>A | |||||||
Y55D5A.5d.1:c.1597G>A | ||||||||
CE46852:p.Ala580Thr | ||||||||
Y55D5A.5c.1:c.1738G>A | ||||||||
CE50312:p.Ala533Thr | ||||||||
Y55D5A.5a.1:c.1738G>A | ||||||||
CE50158:p.Ala504Thr | ||||||||
CE50204:p.Ala580Thr | ||||||||
HGVSg | CHROMOSOME_III:g.3012823C>T | |||||||
Sequence_details | SMap | S_parent | Sequence | Y55D5A | ||||
Flanking_sequences | gaggcaaagtcactgttcagaaatctatat | ctatcacagtttttgaaaatccgaatttaa | ||||||
Mapping_target | Y55D5A | |||||||
Type_of_mutation | Substitution | g | a | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00007959 | |||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00000898 | ||||||
Transcript | Y55D5A.5e.1 (12) | |||||||
Y55D5A.5a.1 (12) | ||||||||
Y55D5A.5c.1 (12) | ||||||||
Y55D5A.5d.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0.01 | deleterious | ||||||
PolyPhen | 1 | probably_damaging | ||||||
HGVSc | Y55D5A.5d.1:c.1597G>A | |||||||
HGVSp | CE50312:p.Ala533Thr | |||||||
cDNA_position | 1597 | |||||||
CDS_position | 1597 | |||||||
Protein_position | 533 | |||||||
Exon_number | 8/16 | |||||||
Codon_change | Gct/Act | |||||||
Amino_acid_change | A/T | |||||||
Interactor | WBInteraction000052468 | |||||||
Genetics | Interpolated_map_position | III | -8.06028 | |||||
Description | Phenotype | WBPhenotype:0000012 | Paper_evidence | WBPaper00002847 | ||||
Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | 100% Daf-c at all temperatures | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
Strictly conditional Daf-c mutant; 99.7% of animals are dauer at 25 deg C. | Paper_evidence | WBPaper00002847 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Penetrance | Complete | 100% | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | |||||||
Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00002847 | ||||
Curator_confirmed | WBPerson712 | |||||||
Reference (6) | ||||||||
Method | Substitution_allele |