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WormBase Tree Display for Variation: WBVar00241264

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Name Class

WBVar00241264EvidencePaper_evidenceWBPaper00005204
NamePublic_nameqm150
Other_nameCE17071:p.Pro225Ser
F42G8.12.1:c.673C>T
HGVSgCHROMOSOME_IV:g.8134970G>A
Sequence_detailsSMapS_parentSequenceF42G8
Flanking_sequencesattggagtgtgcacccatcttggatgtgtccaattggtatgcagtcttttttctcctgaa
Mapping_targetF42G8
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00026669
WBStrain00026670
WBStrain00026672
WBStrain00026674
WBStrain00052465
LaboratoryMQ
StatusLive
Linked_toWBVar02146353
WBVar02146354
WBVar02146355
WBVar02146356
WBVar02146357
WBVar02146358
WBVar02146359
WBVar02146360
AffectsGeneWBGene00002162
TranscriptF42G8.12.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScF42G8.12.1:c.673C>T
HGVSpCE17071:p.Pro225Ser
cDNA_position688
CDS_position673
Protein_position225
Exon_number7/10
Codon_changeCca/Tca
Amino_acid_changeP/S
InteractorWBInteraction000008589
WBInteraction000008590
WBInteraction000501378
WBInteraction000503413
WBInteraction000503414
WBInteraction000504935
WBInteraction000504936
WBInteraction000517935
WBInteraction000520601
WBInteraction000520616
WBInteraction000520618
WBInteraction000520726
WBInteraction000521287
WBInteraction000521444
WBInteraction000524896
WBInteraction000524897
WBInteraction000525069
WBInteraction000535967
WBInteraction000535969
WBInteraction000535971
WBInteraction000535973
WBInteraction000535974
WBInteraction000536185
WBInteraction000536186
WBInteraction000536187
WBInteraction000536188
WBInteraction000536189
WBInteraction000536190
WBInteraction000536191
WBInteraction000536192
WBInteraction000536231
WBInteraction000536234
WBInteraction000536235
WBInteraction000536865
WBInteraction000536976
WBInteraction000536977
WBInteraction000536978
WBInteraction000537287
WBInteraction000537288
WBInteraction000537290
WBInteraction000537427
WBInteraction000537448
WBInteraction000560331
WBInteraction000560340
WBInteraction000573290
GeneticsInterpolated_map_positionIV3.6222
Mapping_dataIn_multi_point4448
DescriptionPhenotype (11)
Phenotype_not_observedWBPhenotype:0000727Paper_evidenceWBPaper00041750
Curator_confirmedWBPerson2987
RemarkDihydrolipoamide dehydrogenase (DLD) enzyme activity was unaffected by the isp-1(qm150) mutation (Figure 2G)Paper_evidenceWBPaper00041750
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentDLD activity in whole-worm extracts was determined spectrophotometrically, exactly as previously described (Bhaskaran et al., 2011).Paper_evidenceWBPaper00041750
Curator_confirmedWBPerson2987
Reference (24)
MethodSubstitution_allele