Paralogue Annotation for KCNQ1 residue 278

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 278
Reference Amino Acid: Y - Tyrosine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 278

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA1S342IEpisodic ataxiaMedium9 15532032, 22609616
KCNB1S347REpileptic encephalopathyMedium9 25164438, 25164438, 25790160

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.



KCNQ1WRLLGSVVFIHRQELITTLYIGFLGLIFSS>Y<FVYLAEKDAVN-----ESGRVEFGSYADAL303
KCNQ2WKLLGSVVYAHSKELVTAWYIGFLCLILAS>F<LVYLAEKGE----------NDHFDTYADAL268
KCNQ3WKLLGSAICAHSKELITAWYIGFLTLILSS>F<LVYLVEKDVPEVDAQGEEMKEEFETYADAL307
KCNQ4WKLLGSVVYAHSKELITAWYIGFLVLIFAS>F<LVYLAEKDA----------NSDFSSYADSL274
KCNQ5WKLLGSVVYAHSKELITAWYIGFLVLIFSS>F<LVYLVEKDA----------NKEFSTYADAL302
KCNA1LQILGQTLKASMRELGLLIFFLFIGVILFS>S<AVYFAEAEE---------AESHFSSIPDAF363
KCNA10LQILGQTLKASMRELGLLIFFLFIGVILFS>S<AVYFAEVDE---------PESHFSSIPDGF412
KCNA2LQILGQTLKASMRELGLLIFFLFIGVILFS>S<AVYFAEADE---------RESQFPSIPDAF365
KCNA3LQILGQTLKASMRELGLLIFFLFIGVILFS>S<AVYFAEADD---------PTSGFSSIPDAF435
KCNA4LQILGHTLRASMRELGLLIFFLFIGVILFS>S<AVYFAEADE---------PTTHFQSIPDAF515
KCNA5LQILGKTLQASMRELGLLIFFLFIGVILFS>S<AVYFAEADN---------QGTHFSSIPDAF471
KCNA6LQILGKTLQASMRELGLLIFFLFIGVILFS>S<AVYFAEADD---------DDSLFPSIPDAF413
KCNA7LQILGQTLRASMRELGLLIFFLFIGVVLFS>S<AVYFAEVDR---------VDSHFTSIPESF349
KCNB1LQSLGFTLRRSYNELGLLILFLAMGIMIFS>S<LVFFAEKDE---------DDTKFKSIPASF368
KCNB2LQSLGFTLRRSYNELGLLILFLAMGIMIFS>S<LVFFAEKDE---------DATKFTSIPASF372
KCNC1LRVLGHTLRASTNEFLLLIIFLALGVLIFA>T<MIYYAERIGAQPNDPSASEHTHFKNIPIGF391
KCNC2LRVLGHTLRASTNEFLLLIIFLALGVLIFA>T<MIYYAERVGAQPNDPSASEHTQFKNIPIGF428
KCNC3LRVLGHTLRASTNEFLLLIIFLALGVLIFA>T<MIYYAERIGADPDDILGSNHTYFKNIPIGF494
KCNC4LRVLGHTLRASTNEFLLLIIFLALGVLIFA>T<MIYYAERIGARPSDPRGNDHTDFKNIPIGF427
KCND1LRILGYTLKSCASELGFLLFSLTMAIIIFA>T<VMFYAEKGT---------NKTNFTSIPAAF363
KCND2LRILGYTLKSCASELGFLLFSLTMAIIIFA>T<VMFYAEKGS---------SASKFTSIPAAF361
KCND3LRILGYTLKSCASELGFLLFSLTMAIIIFA>T<VMFYAEKGS---------SASKFTSIPASF358
KCNF1LQTLTYALKRSFKELGLLLMYLAVGIFVFS>A<LGYTMEQSH---------PETLFKSIPQSF361
KCNG1LQTLGLTARRCTREFGLLLLFLCVAIALFA>P<LLYVIENEM-----A---DSPEFTSIPACY415
KCNG2LRSLGLTMRRCAREFGLLLLFLCVAMALFA>P<LVHLAEREL-----G---ARRDFSSVPASY360
KCNG3LQTLGLTLKRCYREMVMLLVFICVAMAIFS>A<LSQLLEHGL-----DLETSNKDFTSIPAAC364
KCNG4LQTLGLTVRRCTREFGLLLLFLAVAITLFS>P<LVYVAEKES-----G---RVLEFTSIPASY409
KCNS1LRSLGATLKHSYREVGILLLYLAVGVSVFS>G<VAYTAEKEE----------DVGFNTIPACW412
KCNS2LRSLGATLKYSYKEVGLLLLYLSVGISIFS>V<VAYTIEKEE----------NEGLATIPACW365
KCNS3LRSLGATLRHSYHEVGLLLLFLSVGISIFS>V<LIYSVEKDD---------HTSSLTSIPICW361
KCNV1LRSLGMTITQCYEEVGLLLLFLSVGISIFS>T<VEYFAEQSI---------PDTTFTSVPCAW383
KCNV2LRAFGFTLRQCYQQVGCLLLFIAMGIFTFS>A<AVYSVEHDV---------PSTNFTTIPHSW448
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y278Hc.832T>C Inherited ArrhythmiaLQTSrs199472731SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642
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 Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695