WormBase Tree Display for Variation: WBVar00143275
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WBVar00143275 | Evidence | Paper_evidence | WBPaper00044891 | |||||
---|---|---|---|---|---|---|---|---|
Name (3) | ||||||||
Sequence_details (5) | ||||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00004177 | |||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00006803 | ||||||
Transcript | K11C4.3c.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 1 | probably_damaging | ||||||
HGVSc | K11C4.3c.1:c.6229G>A | |||||||
HGVSp | CE12112:p.Glu2077Lys | |||||||
cDNA_position | 6290 | |||||||
CDS_position | 6229 | |||||||
Protein_position | 2077 | |||||||
Exon_number | 7/13 | |||||||
Codon_change | Gaa/Aaa | |||||||
Amino_acid_change | E/K | |||||||
K11C4.3d.1 (12) | ||||||||
K11C4.3a.1 (12) | ||||||||
K11C4.3b.1 (12) | ||||||||
Genetics | Interpolated_map_position | V | 0.424019 | |||||
Mapping_data (2) | ||||||||
Description | Phenotype | WBPhenotype:0000565 | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | |||||||
Remark | irregular movement, sometimes coiling, active; e524/+ weak coiler at 25C | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
Semi_dominant | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Temperature_sensitive | Heat_sensitive | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00000031 | ||||||
WBPaper00001474 | ||||||||
Curator_confirmed | WBPerson48 | |||||||
WBPerson712 | ||||||||
WBPhenotype:0000664 | Paper_evidence | WBPaper00044891 | ||||||
Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | |||||||
WBPerson24311 | ||||||||
Remark | irregular loopy movement | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
Ease_of_scoring | ES2_Difficult_to_score | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000905 | Paper_evidence | WBPaper00044891 | ||||||
Curator_confirmed | WBPerson24311 | |||||||
WBPhenotype:0001213 | Paper_evidence | WBPaper00000914 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | weak semidominance at non-permissive temperature. | Paper_evidence | WBPaper00000914 | |||||
Curator_confirmed | WBPerson48 | |||||||
Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00000914 | ||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0001329 | Paper_evidence | WBPaper00000914 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | weak semidominance at non-permissive temperature. | Paper_evidence | WBPaper00000914 | |||||
Curator_confirmed | WBPerson48 | |||||||
Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00000914 | ||||
Curator_confirmed | WBPerson48 | |||||||
Phenotype_not_observed | WBPhenotype:0000030 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
Remark | grows well | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000641 | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | active | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00001474 | |||||||
WBPaper00000031 | ||||||||
WBPaper00015529 | ||||||||
WBPaper00000914 | ||||||||
WBPaper00044891 | ||||||||
Method | Substitution_allele |