Paralogue Annotation for KCNQ1 residue 265

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 265
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 265

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA1L329IEpisodic ataxiaMedium9 11013453

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.



KCNQ1ILRMLHVDRQGGTWRLLGSVVFIHRQELIT>T<LYIGFLGLIFSSYFVYLAEKDAVN-----E290
KCNQ2ILRMIRMDRRGGTWKLLGSVVYAHSKELVT>A<WYIGFLCLILASFLVYLAEKGE--------257
KCNQ3ILRMLRMDRRGGTWKLLGSAICAHSKELIT>A<WYIGFLTLILSSFLVYLVEKDVPEVDAQGE294
KCNQ4ILRMVRMDRRGGTWKLLGSVVYAHSKELIT>A<WYIGFLVLIFASFLVYLAEKDA--------263
KCNQ5ILRMVRMDRRGGTWKLLGSVVYAHSKELIT>A<WYIGFLVLIFSSFLVYLVEKDA--------291
KCNA1VFRIFKLSRHSKGLQILGQTLKASMRELGL>L<IFFLFIGVILFSSAVYFAEAEE--------351
KCNA10VFRIFKLSRHSKGLQILGQTLKASMRELGL>L<IFFLFIGVILFSSAVYFAEVDE--------400
KCNA2VFRIFKLSRHSKGLQILGQTLKASMRELGL>L<IFFLFIGVILFSSAVYFAEADE--------353
KCNA3VFRIFKLSRHSKGLQILGQTLKASMRELGL>L<IFFLFIGVILFSSAVYFAEADD--------423
KCNA4VFRIFKLSRHSKGLQILGHTLRASMRELGL>L<IFFLFIGVILFSSAVYFAEADE--------503
KCNA5VFRIFKLSRHSKGLQILGKTLQASMRELGL>L<IFFLFIGVILFSSAVYFAEADN--------459
KCNA6VFRIFKLSRHSKGLQILGKTLQASMRELGL>L<IFFLFIGVILFSSAVYFAEADD--------401
KCNA7VFRIFKLSRHSKGLQILGQTLRASMRELGL>L<IFFLFIGVVLFSSAVYFAEVDR--------337
KCNB1ILRILKLARHSTGLQSLGFTLRRSYNELGL>L<ILFLAMGIMIFSSLVFFAEKDE--------356
KCNB2ILRILKLARHSTGLQSLGFTLRRSYNELGL>L<ILFLAMGIMIFSSLVFFAEKDE--------360
KCNC1ILRIFKLTRHFVGLRVLGHTLRASTNEFLL>L<IIFLALGVLIFATMIYYAERIGAQPNDPSA378
KCNC2ILRIFKLTRHFVGLRVLGHTLRASTNEFLL>L<IIFLALGVLIFATMIYYAERVGAQPNDPSA415
KCNC3ILRIFKLTRHFVGLRVLGHTLRASTNEFLL>L<IIFLALGVLIFATMIYYAERIGADPDDILG481
KCNC4ILRIFKLTRHFVGLRVLGHTLRASTNEFLL>L<IIFLALGVLIFATMIYYAERIGARPSDPRG414
KCND1VFRIFKFSRHSQGLRILGYTLKSCASELGF>L<LFSLTMAIIIFATVMFYAEKGT--------351
KCND2VFRIFKFSRHSQGLRILGYTLKSCASELGF>L<LFSLTMAIIIFATVMFYAEKGS--------349
KCND3VFRIFKFSRHSQGLRILGYTLKSCASELGF>L<LFSLTMAIIIFATVMFYAEKGS--------346
KCNF1IARIFKLARHSSGLQTLTYALKRSFKELGL>L<LMYLAVGIFVFSALGYTMEQSH--------349
KCNG1ILYVMRLARHSLGLQTLGLTARRCTREFGL>L<LLFLCVAIALFAPLLYVIENEM-----A--403
KCNG2VLYVMRLARHSLGLRSLGLTMRRCAREFGL>L<LLFLCVAMALFAPLVHLAEREL-----G--348
KCNG3IFWVIKLARHFIGLQTLGLTLKRCYREMVM>L<LVFICVAMAIFSALSQLLEHGL-----DLE351
KCNG4ILYVMRLARHSLGLQTLGLTVRRCTREFGL>L<LLFLAVAITLFSPLVYVAEKES-----G--397
KCNS1IFRVLKLARHSTGLRSLGATLKHSYREVGI>L<LLYLAVGVSVFSGVAYTAEKEE--------401
KCNS2IFRILKLARHSTGLRSLGATLKYSYKEVGL>L<LLYLSVGISIFSVVAYTIEKEE--------354
KCNS3IFRILKLARHSVGLRSLGATLRHSYHEVGL>L<LLFLSVGISIFSVLIYSVEKDD--------349
KCNV1ALRMLKLGRHSTGLRSLGMTITQCYEEVGL>L<LLFLSVGISIFSTVEYFAEQSI--------371
KCNV2IFRILKLARHSTGLRAFGFTLRQCYQQVGC>L<LLFIAMGIFTFSAAVYSVEHDV--------436
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T265Ic.794C>T Inherited ArrhythmiaLQTSrs199472724SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336
Inherited ArrhythmiaLQTS Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(4):417-26. 19808498