Paralogue Annotation for KCNQ1 residue 279

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 279
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 279

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCND3V338ESpinocerebellar ataxia 22Medium9 23280837

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.



KCNQ1RLLGSVVFIHRQELITTLYIGFLGLIFSSY>F<VYLAEKDAVN-----ESGRVEFGSYADALW304
KCNQ2KLLGSVVYAHSKELVTAWYIGFLCLILASF>L<VYLAEKGE----------NDHFDTYADALW269
KCNQ3KLLGSAICAHSKELITAWYIGFLTLILSSF>L<VYLVEKDVPEVDAQGEEMKEEFETYADALW308
KCNQ4KLLGSVVYAHSKELITAWYIGFLVLIFASF>L<VYLAEKDA----------NSDFSSYADSLW275
KCNQ5KLLGSVVYAHSKELITAWYIGFLVLIFSSF>L<VYLVEKDA----------NKEFSTYADALW303
KCNA1QILGQTLKASMRELGLLIFFLFIGVILFSS>A<VYFAEAEE---------AESHFSSIPDAFW364
KCNA10QILGQTLKASMRELGLLIFFLFIGVILFSS>A<VYFAEVDE---------PESHFSSIPDGFW413
KCNA2QILGQTLKASMRELGLLIFFLFIGVILFSS>A<VYFAEADE---------RESQFPSIPDAFW366
KCNA3QILGQTLKASMRELGLLIFFLFIGVILFSS>A<VYFAEADD---------PTSGFSSIPDAFW436
KCNA4QILGHTLRASMRELGLLIFFLFIGVILFSS>A<VYFAEADE---------PTTHFQSIPDAFW516
KCNA5QILGKTLQASMRELGLLIFFLFIGVILFSS>A<VYFAEADN---------QGTHFSSIPDAFW472
KCNA6QILGKTLQASMRELGLLIFFLFIGVILFSS>A<VYFAEADD---------DDSLFPSIPDAFW414
KCNA7QILGQTLRASMRELGLLIFFLFIGVVLFSS>A<VYFAEVDR---------VDSHFTSIPESFW350
KCNB1QSLGFTLRRSYNELGLLILFLAMGIMIFSS>L<VFFAEKDE---------DDTKFKSIPASFW369
KCNB2QSLGFTLRRSYNELGLLILFLAMGIMIFSS>L<VFFAEKDE---------DATKFTSIPASFW373
KCNC1RVLGHTLRASTNEFLLLIIFLALGVLIFAT>M<IYYAERIGAQPNDPSASEHTHFKNIPIGFW392
KCNC2RVLGHTLRASTNEFLLLIIFLALGVLIFAT>M<IYYAERVGAQPNDPSASEHTQFKNIPIGFW429
KCNC3RVLGHTLRASTNEFLLLIIFLALGVLIFAT>M<IYYAERIGADPDDILGSNHTYFKNIPIGFW495
KCNC4RVLGHTLRASTNEFLLLIIFLALGVLIFAT>M<IYYAERIGARPSDPRGNDHTDFKNIPIGFW428
KCND1RILGYTLKSCASELGFLLFSLTMAIIIFAT>V<MFYAEKGT---------NKTNFTSIPAAFW364
KCND2RILGYTLKSCASELGFLLFSLTMAIIIFAT>V<MFYAEKGS---------SASKFTSIPAAFW362
KCND3RILGYTLKSCASELGFLLFSLTMAIIIFAT>V<MFYAEKGS---------SASKFTSIPASFW359
KCNF1QTLTYALKRSFKELGLLLMYLAVGIFVFSA>L<GYTMEQSH---------PETLFKSIPQSFW362
KCNG1QTLGLTARRCTREFGLLLLFLCVAIALFAP>L<LYVIENEM-----A---DSPEFTSIPACYW416
KCNG2RSLGLTMRRCAREFGLLLLFLCVAMALFAP>L<VHLAEREL-----G---ARRDFSSVPASYW361
KCNG3QTLGLTLKRCYREMVMLLVFICVAMAIFSA>L<SQLLEHGL-----DLETSNKDFTSIPAACW365
KCNG4QTLGLTVRRCTREFGLLLLFLAVAITLFSP>L<VYVAEKES-----G---RVLEFTSIPASYW410
KCNS1RSLGATLKHSYREVGILLLYLAVGVSVFSG>V<AYTAEKEE----------DVGFNTIPACWW413
KCNS2RSLGATLKYSYKEVGLLLLYLSVGISIFSV>V<AYTIEKEE----------NEGLATIPACWW366
KCNS3RSLGATLRHSYHEVGLLLLFLSVGISIFSV>L<IYSVEKDD---------HTSSLTSIPICWW362
KCNV1RSLGMTITQCYEEVGLLLLFLSVGISIFST>V<EYFAEQSI---------PDTTFTSVPCAWW384
KCNV2RAFGFTLRQCYQQVGCLLLFIAMGIFTFSA>A<VYSVEHDV---------PSTNFTTIPHSWW449
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F279Ic.835T>A Inherited ArrhythmiaSQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaSQTS A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. Cardiovasc Res. 2015 107(4):613-23. doi: 10.1093/cvr/cvv196. 26168993