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WormBase Tree Display for Variation: WBVar00143075

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Name Class

WBVar00143075EvidencePaper_evidenceWBPaper00041308
NamePublic_namee268
Other_nameCE45298:p.Trp1096Ter
C27H6.1b.1:c.3561G>A
CE45344:p.Trp1469Ter
C27H6.1a.1:c.4407G>A
C27H6.1c.1:c.3288G>A
CE45373:p.Trp1187Ter
HGVSgCHROMOSOME_V:g.9967695C>T
Sequence_detailsSMapS_parentSequenceC27H6
Flanking_sequencesGATTTATTTATTCCGAGAAGAACGTCATTGGGAGTAGGATCAATTCATTCCAAAAAACTT
Mapping_targetC27H6
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00041308
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004139
WBStrain00004387
WBStrain00033407
LaboratoryCB
StatusLive
AffectsGeneWBGene00006777
TranscriptC27H6.1b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC27H6.1b.1:c.3561G>A
HGVSpCE45373:p.Trp1187Ter
cDNA_position3561
CDS_position3561
Protein_position1187
Exon_number8/11
Codon_changetgG/tgA
Amino_acid_changeW/*
C27H6.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC27H6.1a.1:c.4407G>A
HGVSpCE45344:p.Trp1469Ter
cDNA_position4419
CDS_position4407
Protein_position1469
Exon_number11/14
Codon_changetgG/tgA
Amino_acid_changeW/*
C27H6.1c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC27H6.1c.1:c.3288G>A
HGVSpCE45298:p.Trp1096Ter
cDNA_position3288
CDS_position3288
Protein_position1096
Exon_number6/8
Codon_changetgG/tgA
Amino_acid_changeW/*
InteractorWBInteraction000518832
GeneticsInterpolated_map_positionV2.22222
Mapping_dataIn_2_point131
139
947
In_multi_point (15)
In_pos_neg_data307
857
865
1739
1763
2170
3074
3113
DescriptionPhenotypeWBPhenotype:0000002Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkweak kinker; e268/Df similarPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000017Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkRic; e268/Df similarPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003650Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000229Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkslightly small; e268/Df similarPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000507Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkelevated acetycholine levels; e268/Df similarPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000604Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkRVG organization disrupted; e268/Df similarPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005403PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
WBPhenotype:0001333Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkVD1, VD2, DD1 cell bodies mispositioned, usually anteriorly; e268/Df similarPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004609PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0004607PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0004839PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000436Paper_evidenceWBPaper00028886
Curator_confirmedWBPerson48
RemarkLocalization of the synaptic protein SNB-1 is normal, based on expression analysis of SNB-1::VENUS.Paper_evidenceWBPaper00028886
Curator_confirmedWBPerson48
ReferenceWBPaper00041308
WBPaper00028886
WBPaper00000031
WBPaper00002007
MethodSubstitution_allele