Paralogue Annotation for KCNQ1 residue 133

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 133
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 133

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA1I177NEpisodic ataxia / myokymiaMedium9 9600245, 21307345, 12799903

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.



KCNQ1--VQGRVYNFLERPT-GWKCFVYHFAVFLI>V<LVCLIFSVLSTIEQYA--------------149
KCNQ2--LQNFLYNVLERPR-G-WAFIYHAYVFLL>V<FSCLVLSVFSTIKEYE--------------119
KCNQ3--IQTLIYDALERPR-G-WALLYHALVFLI>V<LGCLILAVLTTFKEYE--------------149
KCNQ4--LQNWVYNVLERPR-G-WAFVYHVFIFLL>V<FSCLVLSVLSTIQEHQ--------------125
KCNQ5--VQNYLYNVLERPR-G-WAFIYHAFVFLL>V<FGCLILSVFSTIPEHT--------------153
KCNA1KEYQRQVWLLFEYPESSGPARVIAIVSVMV>I<LISIVIFCLETLPELKDDK-DF--------198
KCNA10NDIHRQFWLLFEYPESSSAARAVAVVSVLV>V<VISITIFCLETLPEFREDR-EL--------247
KCNA2NEFQRQVWLLFEYPESSGPARIIAIVSVMV>I<LISIVSFCLETLPIFRDEN-ED--------194
KCNA3RDFQRQVWLLFEYPESSGPARGIAIVSVLV>I<LISIVIFCLETLPEFRDEK-DY--------265
KCNA4NEFKKQIWLLFEYPESSSPARGIAIVSVLV>I<LISIVIFCLETLPEFRDDR-DL--------338
KCNA5NEFQRQVWLIFEYPESSGSARAIAIVSVLV>I<LISIITFCLETLPEFRDER-ELLRHPPAP-288
KCNA6QPFQRQVWLLFEYPESSGPARGIAIVSVLV>I<LISIVIFCLETLPQFRVDG-RGGNNGGVSR213
KCNA7RAFARQLWLLFEFPESSQAARVLAVVSVLV>I<LVSIVVFCLETLPDFRDDR-DGTGL-----177
KCNB1AEKRKKLWDLLEKPNSSVAAKILAIISIMF>I<VLSTIALSLNTLPELQSLD-EF--------220
KCNB2PDKRKKLWDLLEKPNSSVAAKILAIVSILF>I<VLSTIALSLNTLPELQETD-EF--------224
KCNC1RRWQPRIWALFEDPYSSRYARYVAFASLFF>I<LVSITTFCLETHERFNPIV-NK--------221
KCNC2RRLQPRMWALFEDPYSSRAARFIAFASLFF>I<LVSITTFCLETHEAFNI---VK--------258
KCNC3RRWQPRVWALFEDPYSSRAARYVAFASLFF>I<LISITTFCLETHEGFIHIS-NK--------321
KCNC4RGWQPRMWALFEDPYSSRAARVVAFASLFF>I<LVSITTFCLETHEAFNI---DR-NV-----257
KCND1SSLRQRLWRAFENPHTSTAALVFYYVTGFF>I<AVSVIANVVETIPCRGSAR-RS--------217
KCND2T-ARQRVWRAFENPHTSTMALVFYYVTGFF>I<AVSVIANVVETVPCGS-SP-GH--------215
KCND3S-FRQTMWRAFENPHTSTLALVFYYVTGFF>I<AVSVITNVVETVPCGT-VP-G---------212
KCNF1RRCQKCVWKFLEKPESSCPARVVAVLSFLL>I<LVSSVVMCMGTIPELQVLD-AE--------213
KCNG1R-CMRRLRDMVERPHSGLPGKVFACLSVLF>V<TVTAVNLSVSTLPSLREEEE-Q--------258
KCNG2R-GRRRLRDVVDNPHSGLAGKLFACVSVSF>V<AVTAVGLCLSTMPDIRAEEE-R--------208
KCNG3RRWLERMRRTFEEPTSSLAAQILASVSVVF>V<IVSMVVLCASTLPDWRN-AAAD--------202
KCNG4L-CMNRLREMVENPQSGLPGKVFACLSILF>V<ATTAVSLCVSTMPDLRAEED-Q--------252
KCNS1GRLRRRLWLTMENPGYSLPSKLFSCVSISV>V<LASIAAMCIHSLPEYQARE-AA--------251
KCNS2GNFRRQLWLALDNPGYSVLSRVFSILSILV>V<MGSIITMCLNSLPDFQIPD-SQ--------218
KCNS3GQLRKKIWIRMENPAYCLSAKLIAISSLSV>V<LASIVAMCVHSMSEFQNED-GE--------216
KCNV1PTVRQKLWNILEKPGSSTAARIFGVISIIF>V<VVSIINMALMSAEL----------------234
KCNV2GPQRRRLWNLMEKPFSSVAAKAIGVASSTF>V<LVSVVALALNTVEEMQQHS-GQ--------291
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V133Ic.397G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. Pacing Clin Electrophysiol. 2003 26(8):1660-7. 12877697
Inherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085