Paralogue Annotation for KCNQ1 residue 206

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 206
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 206

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ4F182LDeafness, autosomal dominant 2Medium9 17033161, 23717403, 25116015
KCNA1I262TEpisodic ataxiaMedium9 15127317, 22609616
KCNA1I262MEpisodic ataxia 1Medium9 24639406, 24639406
KCNA2I263TEpileptic encephalopathyMedium9 25751627, 25751627

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.



KCNQ1WSAGCRSKYVGLWGRLRFARKPISIIDLIV>V<VASMVVLCVG----------------SKGQ220
KCNQ2WAAGCCCRYRGWRGRLKFARKPFCVIDIMV>L<IASIAVLAAG----------------SQGN190
KCNQ3WAAGCCCRYKGWRGRLKFARKPLCMLDIFV>L<IASVPVVAVG----------------NQGN220
KCNQ4WSAGCCCRYRGWQGRFRFARKPFCVIDFIV>F<VASVAVIAAG----------------TQGN196
KCNQ5WSAGCCCRYRGWQGRLRFARKPFCVIDTIV>L<IASIAVVSAK----------------TQGN224
KCNA1--------FFACPSKTDFFKNIMNFIDIVA>I<IPYFITLGTEIAEQEG-------N-QKGEQ284
KCNA10--------FVVCPSKTDFFRNIMNIIDIIS>I<IPYFATLITELVQETEP---------SAQQ333
KCNA2--------FFACPSKAGFFTNIMNIIDIVA>I<IPYFITLGTELAEKPE-------DAQQGQQ286
KCNA3--------FFACPSKATFSRNIMNLIDIVA>I<IPYFITLGTELAERQ----------GNGQQ356
KCNA4--------CFACPSQALFFKNIMNIIDIVS>I<LPYFITLGTDLAQQQGG------GNGQQQQ436
KCNA5--------FFACPSKAGFSRNIMNIIDVVA>I<FPYFITLGTELAEQQ---PGGGGGGQNGQQ392
KCNA6--------FSACPSKPAFFRNIMNIIDLVA>I<FPYFITLGTELVQQQEQQPASGGGGQNGQQ334
KCNA7--------LLVCPSKAIFFKNVMNLIDFVA>I<LPYFVALGTELARQR----------GVGQQ270
KCNB1--------FLSSPKKWKFFKGPLNAIDLLA>I<LPYYVTIFLTES---N--------KSVLQF289
KCNB2--------FLSSPNKWKFFKGPLNVIDLLA>I<LPYYVTIFLTES---N--------KSVLQF293
KCNC1--------VIFCPNKVEFIKNSLNIIDFVA>I<LPFYLEVGLSG-------------LSSKAA303
KCNC2--------IVFSPNKLEFIKNLLNIIDFVA>I<LPFYLEVGLSG-------------LSSKAA340
KCNC3--------ITFCPDKVEFLKSSLNIIDCVA>I<LPFYLEVGLSG-------------LSSKAA406
KCNC4--------IVCCPDTLDFVKNLLNIIDFVA>I<LPFYLEVGLSG-------------LSSKAA339
KCND1--------LFAAPSRCRFLRSVMSLIDVVA>I<LPYYIGLLVP------------------KN284
KCND2--------LAAAPSRYRFVRSVMSIIDVVA>I<LPYYIGLVMT------------------DN282
KCND3--------LFAAPSRYRFIRSVMSIIDVVA>I<MPYYIGLVMT------------------NN279
KCNF1--------LFSSPNKLHFALSFMNIVDVLA>I<LPFYVSLTLTHL-----------GARMMEL282
KCNG1--------LIQAPSKFAFLRSPLTLIDLVA>I<LPYYITLLVDGAAAGRR----KPGAGNSYL335
KCNG2--------SLQAESKCAFLRAPLNIIDILA>L<LPFYVSLLLGL-----A----AGPGGTKLL280
KCNG3--------FIVSKNKCEFVKRPLNIIDLLA>I<TPYYISVLMTV-----------FTGENSQL281
KCNG4--------FVQAQDKCQFFQGPLNIIDILA>I<SPYYVSLAVSEEPPEDG----ERPSGSSYL329
KCNS1--------LLLAPSTRNFFCHPLNLIDIVS>V<LPFYLTLLAGVALG-D--------QGGKEF334
KCNS2--------FAVAPDFLKFFKNALNLIDLMS>I<VPFYITLVVNLV---V--------ESTPTL287
KCNS3--------LAAAPCQKKFWKNPLNIIDFVS>I<IPFYATLAVDTK---E--------EESEDI282
KCNV1--------FLCVRDRCRFLRKVPNIIDLLA>I<LPFYITLLVESLSG-S--------QTTQEL304
KCNV2--------LASTPDLRRFARSALNLVDLVA>I<LPLYLQLLLECFTGEGH----QRGQTVGSV369
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V206Lc.616G>C Putative BenignSIFT:
Polyphen: