WormBase Tree Display for Variation: WBVar00142938
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WBVar00142938 | Evidence | Paper_evidence | WBPaper00006005 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e55 | |||||
Other_name (30) | |||||||
HGVSg | CHROMOSOME_X:g.2723343G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | T02C5 | |||
Flanking_sequences | agacggcgagccgctaataaaaagttaaaa | aagcctcaaaacagcagtctacagaaactg | |||||
Mapping_target | T02C5 | ||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00006005 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00004087 | ||||||
WBStrain00004519 | |||||||
WBStrain00005534 | |||||||
WBStrain00005535 | |||||||
WBStrain00005536 | |||||||
WBStrain00008428 | |||||||
WBStrain00027630 | |||||||
WBStrain00029947 | |||||||
WBStrain00030697 | |||||||
WBStrain00030826 | |||||||
WBStrain00034256 | |||||||
WBStrain00035027 | |||||||
WBStrain00035127 | |||||||
WBStrain00035128 | |||||||
Laboratory | CB | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00006742 | |||||
Transcript | T02C5.5g.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5g.1:c.1462C>T | ||||||
HGVSp | CE51886:p.Gln488Ter | ||||||
cDNA_position | 1462 | ||||||
CDS_position | 1462 | ||||||
Protein_position | 488 | ||||||
Exon_number | 8/29 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5q.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5q.1:c.1246C>T | ||||||
HGVSp | CE52709:p.Gln416Ter | ||||||
cDNA_position | 1246 | ||||||
CDS_position | 1246 | ||||||
Protein_position | 416 | ||||||
Exon_number | 8/28 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5j.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5j.1:c.1267C>T | ||||||
HGVSp | CE51856:p.Gln423Ter | ||||||
cDNA_position | 1267 | ||||||
CDS_position | 1267 | ||||||
Protein_position | 423 | ||||||
Exon_number | 8/29 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5o.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5o.1:c.1648C>T | ||||||
HGVSp | CE52764:p.Gln550Ter | ||||||
cDNA_position | 1648 | ||||||
CDS_position | 1648 | ||||||
Protein_position | 550 | ||||||
Exon_number | 12/32 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5f.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5f.1:c.1462C>T | ||||||
HGVSp | CE51879:p.Gln488Ter | ||||||
cDNA_position | 1462 | ||||||
CDS_position | 1462 | ||||||
Protein_position | 488 | ||||||
Exon_number | 8/30 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5h.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5h.1:c.1462C>T | ||||||
HGVSp | CE51907:p.Gln488Ter | ||||||
cDNA_position | 1462 | ||||||
CDS_position | 1462 | ||||||
Protein_position | 488 | ||||||
Exon_number | 8/29 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5c.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5c.1:c.994C>T | ||||||
HGVSp | CE51899:p.Gln332Ter | ||||||
cDNA_position | 994 | ||||||
CDS_position | 994 | ||||||
Protein_position | 332 | ||||||
Exon_number | 6/28 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5p.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5p.1:c.1804C>T | ||||||
HGVSp | CE52692:p.Gln602Ter | ||||||
cDNA_position | 1804 | ||||||
CDS_position | 1804 | ||||||
Protein_position | 602 | ||||||
Exon_number | 14/34 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5k.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5k.1:c.1267C>T | ||||||
HGVSp | CE51839:p.Gln423Ter | ||||||
cDNA_position | 1267 | ||||||
CDS_position | 1267 | ||||||
Protein_position | 423 | ||||||
Exon_number | 8/28 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5m.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5m.1:c.1267C>T | ||||||
HGVSp | CE51867:p.Gln423Ter | ||||||
cDNA_position | 1267 | ||||||
CDS_position | 1267 | ||||||
Protein_position | 423 | ||||||
Exon_number | 8/28 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5l.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5l.1:c.1267C>T | ||||||
HGVSp | CE51857:p.Gln423Ter | ||||||
cDNA_position | 1267 | ||||||
CDS_position | 1267 | ||||||
Protein_position | 423 | ||||||
Exon_number | 8/29 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5a.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5a.1:c.994C>T | ||||||
HGVSp | CE51900:p.Gln332Ter | ||||||
cDNA_position | 994 | ||||||
CDS_position | 994 | ||||||
Protein_position | 332 | ||||||
Exon_number | 6/21 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5n.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5n.1:c.1672C>T | ||||||
HGVSp | CE52755:p.Gln558Ter | ||||||
cDNA_position | 1672 | ||||||
CDS_position | 1672 | ||||||
Protein_position | 558 | ||||||
Exon_number | 12/32 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5i.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5i.1:c.1462C>T | ||||||
HGVSp | CE51840:p.Gln488Ter | ||||||
cDNA_position | 1462 | ||||||
CDS_position | 1462 | ||||||
Protein_position | 488 | ||||||
Exon_number | 8/28 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
T02C5.5b.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T02C5.5b.1:c.1372C>T | ||||||
HGVSp | CE34980:p.Gln458Ter | ||||||
cDNA_position | 1428 | ||||||
CDS_position | 1372 | ||||||
Protein_position | 458 | ||||||
Exon_number | 9/30 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
Interactor | WBInteraction000052099 | ||||||
WBInteraction000052101 | |||||||
WBInteraction000501477 | |||||||
WBInteraction000501479 | |||||||
WBInteraction000502185 | |||||||
Isolation | Mutagen | EMS | |||||
Genetics | Interpolated_map_position | X | -13.8024 | ||||
Mapping_data | In_2_point | 154 | |||||
3151 | |||||||
In_multi_point (14) | |||||||
In_pos_neg_data (18) | |||||||
Description (2) | |||||||
Reference (21) | |||||||
Remark | Resequencing of e55 places the lesion at Q(458) (in isoform T02C5.5b) with flanks of agacggcgagccgctaataaaaagttaaaa & aagcctcaaaacagcagtctacagaaactg | Person_evidence | WBPerson12335 | ||||
Laboratory_evidence | KG | ||||||
Following genotyping from the CGC we are updating the flanking sequences to follow both the reported update from 2011 and those now supplied by the CGC. Old flanks [tgttgccattcagttggaaaattcatcaaa aactgaggtaagaataaataatagtgtttt]. | Person_evidence | WBPerson2207 | |||||
Curator_confirmed | WBPerson1983 | ||||||
Method | Substitution_allele |