WormBase Tree Display for Variation: WBVar00143187
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WBVar00143187 | Evidence | Paper_evidence | WBPaper00031105 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e408 | ||||||
Other_name (23) | ||||||||
HGVSg | CHROMOSOME_IV:g.10338170G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | K11E8 | ||||
Flanking_sequences | acggatttgctggaactccaggatacttgt | gccagaagttctcaagaaggatccatactc | ||||||
Mapping_target | K11E8 | |||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00031105 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00004165 | |||||||
WBStrain00022482 | ||||||||
WBStrain00030762 | ||||||||
WBStrain00056767 | ||||||||
Laboratory | CB | |||||||
EN | ||||||||
Status | Live | |||||||
Affects | Gene | WBGene00006779 | ||||||
Transcript | K11E8.1f.2 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1f.2:c.536C>T | |||||||
HGVSp | CE28056:p.Ser179Leu | |||||||
cDNA_position | 766 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 7/18 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1e.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1e.1:c.536C>T | |||||||
HGVSp | CE28055:p.Ser179Leu | |||||||
cDNA_position | 833 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 8/19 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1h.2 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1h.2:c.536C>T | |||||||
HGVSp | CE28058:p.Ser179Leu | |||||||
cDNA_position | 770 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 7/19 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1d.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1d.1:c.536C>T | |||||||
HGVSp | CE28054:p.Ser179Leu | |||||||
cDNA_position | 760 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 7/17 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1g.2 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1g.2:c.536C>T | |||||||
HGVSp | CE28057:p.Ser179Leu | |||||||
cDNA_position | 770 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 7/18 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1f.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1f.1:c.536C>T | |||||||
HGVSp | CE28056:p.Ser179Leu | |||||||
cDNA_position | 847 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 8/19 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1h.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1h.1:c.536C>T | |||||||
HGVSp | CE28058:p.Ser179Leu | |||||||
cDNA_position | 832 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 8/20 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1e.2 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1e.2:c.536C>T | |||||||
HGVSp | CE28055:p.Ser179Leu | |||||||
cDNA_position | 766 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 7/18 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1g.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1g.1:c.536C>T | |||||||
HGVSp | CE28057:p.Ser179Leu | |||||||
cDNA_position | 836 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 8/19 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1k.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1k.1:c.536C>T | |||||||
HGVSp | CE28060:p.Ser179Leu | |||||||
cDNA_position | 536 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 5/14 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1i.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1i.1:c.536C>T | |||||||
HGVSp | CE28059:p.Ser179Leu | |||||||
cDNA_position | 771 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 7/16 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1d.2 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1d.2:c.536C>T | |||||||
HGVSp | CE28054:p.Ser179Leu | |||||||
cDNA_position | 847 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 8/18 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1r.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1r.1:c.866C>T | |||||||
HGVSp | CE45912:p.Ser289Leu | |||||||
cDNA_position | 866 | |||||||
CDS_position | 866 | |||||||
Protein_position | 289 | |||||||
Exon_number | 8/19 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
K11E8.1l.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K11E8.1l.1:c.536C>T | |||||||
HGVSp | CE28061:p.Ser179Leu | |||||||
cDNA_position | 536 | |||||||
CDS_position | 536 | |||||||
Protein_position | 179 | |||||||
Exon_number | 5/14 | |||||||
Codon_change | tCg/tTg | |||||||
Amino_acid_change | S/L | |||||||
Interactor | WBInteraction000501679 | |||||||
Genetics (2) | ||||||||
Description | Phenotype (15) | |||||||
Phenotype_not_observed | WBPhenotype:0001645 | Paper_evidence | WBPaper00040284 | |||||
Curator_confirmed | WBPerson2987 | |||||||
Remark | Table S2 | Paper_evidence | WBPaper00040284 | |||||
Curator_confirmed | WBPerson2987 | |||||||
WBPhenotype:0001660 | Paper_evidence | WBPaper00006052 | ||||||
Curator_confirmed | WBPerson2021 | |||||||
Remark | No disruption of ASE asymmetry (as seen with lim-6 reporters) | Paper_evidence | WBPaper00006052 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Variation_effect | Hypomorph_reduction_of_function | Paper_evidence | WBPaper00006052 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Phenotype_assay | Genotype | otIs114, otIs6 | Paper_evidence | WBPaper00006052 | ||||
Curator_confirmed | WBPerson2021 | |||||||
Reference (12) | ||||||||
Method | Substitution_allele |