Paralogue Annotation for KCNQ1 residue 284

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 284
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 284

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ4E260KDeafness, autosomal dominant 2High9 18941426

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.



KCNQ1VVFIHRQELITTLYIGFLGLIFSSYFVYLA>E<KDAVN-----ESGRVEFGSYADALWWGVVT309
KCNQ2VVYAHSKELVTAWYIGFLCLILASFLVYLA>E<KGE----------NDHFDTYADALWWGLIT274
KCNQ3AICAHSKELITAWYIGFLTLILSSFLVYLV>E<KDVPEVDAQGEEMKEEFETYADALWWGLIT313
KCNQ4VVYAHSKELITAWYIGFLVLIFASFLVYLA>E<KDA----------NSDFSSYADSLWWGTIT280
KCNQ5VVYAHSKELITAWYIGFLVLIFSSFLVYLV>E<KDA----------NKEFSTYADALWWGTIT308
KCNA1TLKASMRELGLLIFFLFIGVILFSSAVYFA>E<AEE---------AESHFSSIPDAFWWAVVS369
KCNA10TLKASMRELGLLIFFLFIGVILFSSAVYFA>E<VDE---------PESHFSSIPDGFWWAVVT418
KCNA2TLKASMRELGLLIFFLFIGVILFSSAVYFA>E<ADE---------RESQFPSIPDAFWWAVVS371
KCNA3TLKASMRELGLLIFFLFIGVILFSSAVYFA>E<ADD---------PTSGFSSIPDAFWWAVVT441
KCNA4TLRASMRELGLLIFFLFIGVILFSSAVYFA>E<ADE---------PTTHFQSIPDAFWWAVVT521
KCNA5TLQASMRELGLLIFFLFIGVILFSSAVYFA>E<ADN---------QGTHFSSIPDAFWWAVVT477
KCNA6TLQASMRELGLLIFFLFIGVILFSSAVYFA>E<ADD---------DDSLFPSIPDAFWWAVVT419
KCNA7TLRASMRELGLLIFFLFIGVVLFSSAVYFA>E<VDR---------VDSHFTSIPESFWWAVVT355
KCNB1TLRRSYNELGLLILFLAMGIMIFSSLVFFA>E<KDE---------DDTKFKSIPASFWWATIT374
KCNB2TLRRSYNELGLLILFLAMGIMIFSSLVFFA>E<KDE---------DATKFTSIPASFWWATIT378
KCNC1TLRASTNEFLLLIIFLALGVLIFATMIYYA>E<RIGAQPNDPSASEHTHFKNIPIGFWWAVVT397
KCNC2TLRASTNEFLLLIIFLALGVLIFATMIYYA>E<RVGAQPNDPSASEHTQFKNIPIGFWWAVVT434
KCNC3TLRASTNEFLLLIIFLALGVLIFATMIYYA>E<RIGADPDDILGSNHTYFKNIPIGFWWAVVT500
KCNC4TLRASTNEFLLLIIFLALGVLIFATMIYYA>E<RIGARPSDPRGNDHTDFKNIPIGFWWAVVT433
KCND1TLKSCASELGFLLFSLTMAIIIFATVMFYA>E<KGT---------NKTNFTSIPAAFWYTIVT369
KCND2TLKSCASELGFLLFSLTMAIIIFATVMFYA>E<KGS---------SASKFTSIPAAFWYTIVT367
KCND3TLKSCASELGFLLFSLTMAIIIFATVMFYA>E<KGS---------SASKFTSIPASFWYTIVT364
KCNF1ALKRSFKELGLLLMYLAVGIFVFSALGYTM>E<QSH---------PETLFKSIPQSFWWAIIT367
KCNG1TARRCTREFGLLLLFLCVAIALFAPLLYVI>E<NEM-----A---DSPEFTSIPACYWWAVIT421
KCNG2TMRRCAREFGLLLLFLCVAMALFAPLVHLA>E<REL-----G---ARRDFSSVPASYWWAVIS366
KCNG3TLKRCYREMVMLLVFICVAMAIFSALSQLL>E<HGL-----DLETSNKDFTSIPAACWWVIIS370
KCNG4TVRRCTREFGLLLLFLAVAITLFSPLVYVA>E<KES-----G---RVLEFTSIPASYWWAIIS415
KCNS1TLKHSYREVGILLLYLAVGVSVFSGVAYTA>E<KEE----------DVGFNTIPACWWWGTVS418
KCNS2TLKYSYKEVGLLLLYLSVGISIFSVVAYTI>E<KEE----------NEGLATIPACWWWATVS371
KCNS3TLRHSYHEVGLLLLFLSVGISIFSVLIYSV>E<KDD---------HTSSLTSIPICWWWATIS367
KCNV1TITQCYEEVGLLLLFLSVGISIFSTVEYFA>E<QSI---------PDTTFTSVPCAWWWATTS389
KCNV2TLRQCYQQVGCLLLFIAMGIFTFSAAVYSV>E<HDV---------PSTNFTTIPHSWWWAAVS454
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E284Kc.850G>A Inherited ArrhythmiaLQTSrs199472734SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125
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