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WormBase Tree Display for Variation: WBVar00249014

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WBVar00249014	Evidence	Paper_evidence	WBPaper00031105
	Name	Public_name	sy574B
		Other_name	K11E8.1t.1:c.728C>T
			K11E8.1a.1:c.524C>T
			K11E8.1e.2:c.1433C>T
			CE28055:p.Ala478Val
			K11E8.1i.1:c.*2679C>T
			K11E8.1s.1:c.632C>T
			CE28058:p.Ala516Val
			K11E8.1f.1:c.1388C>T
			K11E8.1e.1:c.1433C>T
			K11E8.1h.2:c.1547C>T
			K11E8.1k.1:c.*337C>T
			K11E8.1f.2:c.1388C>T
			K11E8.1h.1:c.1547C>T
			K11E8.1p.1:c.482C>T
			CE28056:p.Ala463Val
			CE42693:p.Ala175Val
			CE35590:p.Ala254Val
			K11E8.1o.1:c.641C>T
			K11E8.1q.1:c.143C>T
			CE46036:p.Ala243Val
			CE28057:p.Ala465Val
			CE42670:p.Ala161Val
			CE45591:p.Ala48Val
			CE46076:p.Ala211Val
			CE45912:p.Ala626Val
			K11E8.1g.1:c.1394C>T
			CE28054:p.Ala427Val
			K11E8.1g.2:c.1394C>T
			K11E8.1m.1:c.761C>T
			K11E8.1n.1:c.479C>T
			CE40979:p.Ala160Val
			K11E8.1r.1:c.1877C>T
			K11E8.1d.2:c.1280C>T
			CE41430:p.Ala214Val
			K11E8.1d.1:c.1280C>T
			K11E8.1l.1:c.*322C>T
		HGVSg	CHROMOSOME_IV:g.10326009G>A
	Sequence_details	SMap	S_parent	Sequence	K11E8
		Flanking_sequences	cgaatgtgcatatcattggagaagatgccg	gtgtgttgcttacgtgaaattgacacagtt
		Mapping_target	K11E8
		Type_of_mutation	Substitution	c	t	Paper_evidence	WBPaper00031105
		SeqStatus	Sequenced
	Variation_type	Allele
	Origin	Species	Caenorhabditis elegans
		Laboratory	PS
		Status	Live
	Affects	Gene	WBGene00006779
		Transcript	K11E8.1f.2	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	1	probably_damaging
				HGVSc	K11E8.1f.2:c.1388C>T
				HGVSp	CE28056:p.Ala463Val
				cDNA_position	1618
				CDS_position	1388
				Protein_position	463
				Exon_number	16/18
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1e.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	0.997	probably_damaging
				HGVSc	K11E8.1e.1:c.1433C>T
				HGVSp	CE28055:p.Ala478Val
				cDNA_position	1730
				CDS_position	1433
				Protein_position	478
				Exon_number	17/19
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1t.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious
				PolyPhen	1	probably_damaging
				HGVSc	K11E8.1t.1:c.728C>T
				HGVSp	CE46036:p.Ala243Val
				cDNA_position	728
				CDS_position	728
				Protein_position	243
				Exon_number	6/7
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1s.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	0.999	probably_damaging
				HGVSc	K11E8.1s.1:c.632C>T
				HGVSp	CE46076:p.Ala211Val
				cDNA_position	632
				CDS_position	632
				Protein_position	211
				Exon_number	7/8
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1g.2	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	0.997	probably_damaging
				HGVSc	K11E8.1g.2:c.1394C>T
				HGVSp	CE28057:p.Ala465Val
				cDNA_position	1628
				CDS_position	1394
				Protein_position	465
				Exon_number	16/18
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1p.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious
				PolyPhen	0.997	probably_damaging
				HGVSc	K11E8.1p.1:c.482C>T
				HGVSp	CE42670:p.Ala161Val
				cDNA_position	482
				CDS_position	482
				Protein_position	161
				Exon_number	6/7
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1o.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	0.997	probably_damaging
				HGVSc	K11E8.1o.1:c.641C>T
				HGVSp	CE41430:p.Ala214Val
				cDNA_position	841
				CDS_position	641
				Protein_position	214
				Exon_number	6/8
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1h.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	0.999	probably_damaging
				HGVSc	K11E8.1h.1:c.1547C>T
				HGVSp	CE28058:p.Ala516Val
				cDNA_position	1843
				CDS_position	1547
				Protein_position	516
				Exon_number	18/20
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1m.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	1	probably_damaging
				HGVSc	K11E8.1m.1:c.761C>T
				HGVSp	CE35590:p.Ala254Val
				cDNA_position	1009
				CDS_position	761
				Protein_position	254
				Exon_number	7/9
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1d.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	0.991	probably_damaging
				HGVSc	K11E8.1d.1:c.1280C>T
				HGVSp	CE28054:p.Ala427Val
				cDNA_position	1504
				CDS_position	1280
				Protein_position	427
				Exon_number	15/17
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1h.2	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	0.999	probably_damaging
				HGVSc	K11E8.1h.2:c.1547C>T
				HGVSp	CE28058:p.Ala516Val
				cDNA_position	1781
				CDS_position	1547
				Protein_position	516
				Exon_number	17/19
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1a.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious
				PolyPhen	1	probably_damaging
				HGVSc	K11E8.1a.1:c.524C>T
				HGVSp	CE42693:p.Ala175Val
				cDNA_position	524
				CDS_position	524
				Protein_position	175
				Exon_number	6/8
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1q.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	1	probably_damaging
				HGVSc	K11E8.1q.1:c.143C>T
				HGVSp	CE45591:p.Ala48Val
				cDNA_position	143
				CDS_position	143
				Protein_position	48
				Exon_number	2/3
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1f.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	1	probably_damaging
				HGVSc	K11E8.1f.1:c.1388C>T
				HGVSp	CE28056:p.Ala463Val
				cDNA_position	1699
				CDS_position	1388
				Protein_position	463
				Exon_number	17/19
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1n.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious
				PolyPhen	1	probably_damaging
				HGVSc	K11E8.1n.1:c.479C>T
				HGVSp	CE40979:p.Ala160Val
				cDNA_position	652
				CDS_position	479
				Protein_position	160
				Exon_number	7/9
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1g.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	0.997	probably_damaging
				HGVSc	K11E8.1g.1:c.1394C>T
				HGVSp	CE28057:p.Ala465Val
				cDNA_position	1694
				CDS_position	1394
				Protein_position	465
				Exon_number	17/19
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1e.2	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	0.997	probably_damaging
				HGVSc	K11E8.1e.2:c.1433C>T
				HGVSp	CE28055:p.Ala478Val
				cDNA_position	1663
				CDS_position	1433
				Protein_position	478
				Exon_number	16/18
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1d.2	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	0.991	probably_damaging
				HGVSc	K11E8.1d.2:c.1280C>T
				HGVSp	CE28054:p.Ala427Val
				cDNA_position	1591
				CDS_position	1280
				Protein_position	427
				Exon_number	16/18
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1i.1	VEP_consequence	3_prime_UTR_variant
				VEP_impact	MODIFIER
				HGVSc	K11E8.1i.1:c.*2679C>T
				cDNA_position	3967
				Exon_number	15/16
			K11E8.1k.1	VEP_consequence	3_prime_UTR_variant
				VEP_impact	MODIFIER
				HGVSc	K11E8.1k.1:c.*337C>T
				cDNA_position	1246
				Exon_number	13/14
			K11E8.1r.1	VEP_consequence	missense_variant
				VEP_impact	MODERATE
				SIFT	0	deleterious_low_confidence
				PolyPhen	0.999	probably_damaging
				HGVSc	K11E8.1r.1:c.1877C>T
				HGVSp	CE45912:p.Ala626Val
				cDNA_position	1877
				CDS_position	1877
				Protein_position	626
				Exon_number	18/19
				Codon_change	gCg/gTg
				Amino_acid_change	A/V
			K11E8.1l.1	VEP_consequence	3_prime_UTR_variant
				VEP_impact	MODIFIER
				HGVSc	K11E8.1l.1:c.*322C>T
				cDNA_position	1231
				Exon_number	13/14
	Genetics	Interpolated_map_position	IV	4.5751
	Reference	WBPaper00031105
	Method	Substitution_allele