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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	Interpolated_map_position	IV	4.5762
		Mapping_data	In_multi_point	764
			In_pos_neg_data	956
				2739
	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