Paralogue Annotation for KCNQ1 residue 188

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 188
Reference Amino Acid: W - Tryptophan
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 188

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA1P244HMyokymiaMedium8 11026449

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.



KCNQ1WMEIVLVVFFGTEYVVRLWSAGCRSKYVGL>W<GRLRFARKPISIIDLIVVVASMVVLCVG--216
KCNQ2ILEIVTIVVFGVEYFVRIWAAGCCCRYRGW>R<GRLKFARKPFCVIDIMVLIASIAVLAAG--186
KCNQ3LLETFAIFIFGAEFALRIWAAGCCCRYKGW>R<GRLKFARKPLCMLDIFVLIASVPVVAVG--216
KCNQ4ILEFVMIVVFGLEYIVRVWSAGCCCRYRGW>Q<GRFRFARKPFCVIDFIVFVASVAVIAAG--192
KCNQ5ILEFVMIVVFGLEFIIRIWSAGCCCRYRGW>Q<GRLRFARKPFCVIDTIVLIASIAVVSAK--220
KCNA1IVETLCIIWFSFELVVR---------FFAC>P<SKTDFFKNIMNFIDIVAIIPYFITLGTEIA274
KCNA10MVESTCIVWFTFELVLR---------FVVC>P<SKTDFFRNIMNIIDIISIIPYFATLITELV324
KCNA2IVETLCIIWFSFEFLVR---------FFAC>P<SKAGFFTNIMNIIDIVAIIPYFITLGTELA275
KCNA3VVETLCIIWFSFELLVR---------FFAC>P<SKATFSRNIMNLIDIVAIIPYFITLGTELA348
KCNA4IVETVCIVWFSFEFVVR---------CFAC>P<SQALFFKNIMNIIDIVSILPYFITLGTDLA424
KCNA5IVETTCVIWFTFELLVR---------FFAC>P<SKAGFSRNIMNIIDVVAIFPYFITLGTELA377
KCNA6LVETLCIVWFTFELLVR---------FSAC>P<SKPAFFRNIMNIIDLVAIFPYFITLGTELV316
KCNA7VVETLCICWFSFELLVR---------LLVC>P<SKAIFFKNVMNLIDFVAILPYFVALGTELA262
KCNB1HVEAVCIAWFTMEYLLR---------FLSS>P<KKWKFFKGPLNAIDLLAILPYYVTIFLTES282
KCNB2HVEAVCIAWFTMEYLLR---------FLSS>P<NKWKFFKGPLNVIDLLAILPYYVTIFLTES286
KCNC1YIEGVCVVWFTFEFLMR---------VIFC>P<NKVEFIKNSLNIIDFVAILPFYLEVGLSG-297
KCNC2YVEGVCVVWFTFEFLVR---------IVFS>P<NKLEFIKNLLNIIDFVAILPFYLEVGLSG-334
KCNC3YVEGVCVVWFTFEFLMR---------ITFC>P<DKVEFLKSSLNIIDCVAILPFYLEVGLSG-400
KCNC4YIEGVCVLWFTLEFLVR---------IVCC>P<DTLDFVKNLLNIIDFVAILPFYLEVGLSG-333
KCND1CMDTACVLIFTGEYLLR---------LFAA>P<SRCRFLRSVMSLIDVVAILPYYIGLLVP--282
KCND2CLDTACVMIFTVEYLLR---------LAAA>P<SRYRFVRSVMSIIDVVAILPYYIGLVMT--280
KCND3CLDTACVMIFTVEYLLR---------LFAA>P<SRYRFIRSVMSIIDVVAIMPYYIGLVMT--277
KCNF1NVETACIGWFTLEYLLR---------LFSS>P<NKLHFALSFMNIVDVLAILPFYVSLTLTHL275
KCNG1IVESVCVGWFSLEFLLR---------LIQA>P<SKFAFLRSPLTLIDLVAILPYYITLLVDGA321
KCNG2VLETVCVAWFSFEFLLR---------SLQA>E<SKCAFLRAPLNIIDILALLPFYVSLLLGL-270
KCNG3IIEAICIGWFTAECIVR---------FIVS>K<NKCEFVKRPLNIIDLLAITPYYISVLMTV-273
KCNG4IVETICVAWFSLEFCLR---------FVQA>Q<DKCQFFQGPLNIIDILAISPYYVSLAVSEE315
KCNS1RLEYFCIAWFSFEVSSR---------LLLA>P<STRNFFCHPLNLIDIVSVLPFYLTLLAGVA325
KCNS2IVEHFGIAWFTFELVAR---------FAVA>P<DFLKFFKNALNLIDLMSIVPFYITLVVNLV280
KCNS3GVEIACIAWFTGELAVR---------LAAA>P<CQKKFWKNPLNIIDFVSIIPFYATLAVDTK275
KCNV1ILEYVCISWFTGEFVLR---------FLCV>R<DRCRFLRKVPNIIDLLAILPFYITLLVESL295
KCNV2HVEMLCMGFFTLEYLLR---------LAST>P<DLRRFARSALNLVDLVAILPLYLQLLLECF355
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W188Cc.564G>C Putative BenignSIFT: tolerated
Polyphen: benign