Paralogue Annotation for KCNQ1 residue 262

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 262
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 262

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNC3F448LSpinocerebellar ataxia 13Medium9 16501573, 18592334, 20712895, 22289912, 22736459, 23734863, 25756792

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.



KCNQ1FLQILRMLHVDRQGGTWRLLGSVVFIHRQE>L<ITTLYIGFLGLIFSSYFVYLAEKDAVN---289
KCNQ2FLQILRMIRMDRRGGTWKLLGSVVYAHSKE>L<VTAWYIGFLCLILASFLVYLAEKGE-----257
KCNQ3FLQILRMLRMDRRGGTWKLLGSAICAHSKE>L<ITAWYIGFLTLILSSFLVYLVEKDVPEVDA291
KCNQ4FLQILRMVRMDRRGGTWKLLGSVVYAHSKE>L<ITAWYIGFLVLIFASFLVYLAEKDA-----263
KCNQ5FLQILRMVRMDRRGGTWKLLGSVVYAHSKE>L<ITAWYIGFLVLIFSSFLVYLVEKDA-----291
KCNA1LVRVFRIFKLSRHSKGLQILGQTLKASMRE>L<GLLIFFLFIGVILFSSAVYFAEAEE-----351
KCNA10LVRVFRIFKLSRHSKGLQILGQTLKASMRE>L<GLLIFFLFIGVILFSSAVYFAEVDE-----400
KCNA2LVRVFRIFKLSRHSKGLQILGQTLKASMRE>L<GLLIFFLFIGVILFSSAVYFAEADE-----353
KCNA3LVRVFRIFKLSRHSKGLQILGQTLKASMRE>L<GLLIFFLFIGVILFSSAVYFAEADD-----423
KCNA4LVRVFRIFKLSRHSKGLQILGHTLRASMRE>L<GLLIFFLFIGVILFSSAVYFAEADE-----503
KCNA5LVRVFRIFKLSRHSKGLQILGKTLQASMRE>L<GLLIFFLFIGVILFSSAVYFAEADN-----459
KCNA6LVRVFRIFKLSRHSKGLQILGKTLQASMRE>L<GLLIFFLFIGVILFSSAVYFAEADD-----401
KCNA7LVRVFRIFKLSRHSKGLQILGQTLRASMRE>L<GLLIFFLFIGVVLFSSAVYFAEVDR-----337
KCNB1IMRILRILKLARHSTGLQSLGFTLRRSYNE>L<GLLILFLAMGIMIFSSLVFFAEKDE-----356
KCNB2IMRILRILKLARHSTGLQSLGFTLRRSYNE>L<GLLILFLAMGIMIFSSLVFFAEKDE-----360
KCNC1FVRILRIFKLTRHFVGLRVLGHTLRASTNE>F<LLLIIFLALGVLIFATMIYYAERIGAQPND375
KCNC2FVRILRIFKLTRHFVGLRVLGHTLRASTNE>F<LLLIIFLALGVLIFATMIYYAERVGAQPND412
KCNC3FVRILRIFKLTRHFVGLRVLGHTLRASTNE>F<LLLIIFLALGVLIFATMIYYAERIGADPDD478
KCNC4FVRILRIFKLTRHFVGLRVLGHTLRASTNE>F<LLLIIFLALGVLIFATMIYYAERIGARPSD411
KCND1VFRVFRIFKFSRHSQGLRILGYTLKSCASE>L<GFLLFSLTMAIIIFATVMFYAEKGT-----351
KCND2VFRVFRIFKFSRHSQGLRILGYTLKSCASE>L<GFLLFSLTMAIIIFATVMFYAEKGS-----349
KCND3VFRVFRIFKFSRHSQGLRILGYTLKSCASE>L<GFLLFSLTMAIIIFATVMFYAEKGS-----346
KCNF1IMRIARIFKLARHSSGLQTLTYALKRSFKE>L<GLLLMYLAVGIFVFSALGYTMEQSH-----349
KCNG1ALRILYVMRLARHSLGLQTLGLTARRCTRE>F<GLLLLFLCVAIALFAPLLYVIENEM-----402
KCNG2ALRVLYVMRLARHSLGLRSLGLTMRRCARE>F<GLLLLFLCVAMALFAPLVHLAEREL-----347
KCNG3MMRIFWVIKLARHFIGLQTLGLTLKRCYRE>M<VMLLVFICVAMAIFSALSQLLEHGL-----348
KCNG4ALRILYVMRLARHSLGLQTLGLTVRRCTRE>F<GLLLLFLAVAITLFSPLVYVAEKES-----396
KCNS1LMRIFRVLKLARHSTGLRSLGATLKHSYRE>V<GILLLYLAVGVSVFSGVAYTAEKEE-----401
KCNS2LMRIFRILKLARHSTGLRSLGATLKYSYKE>V<GLLLLYLSVGISIFSVVAYTIEKEE-----354
KCNS3LMRIFRILKLARHSVGLRSLGATLRHSYHE>V<GLLLLFLSVGISIFSVLIYSVEKDD-----349
KCNV1LLRALRMLKLGRHSTGLRSLGMTITQCYEE>V<GLLLLFLSVGISIFSTVEYFAEQSI-----371
KCNV2LMRIFRILKLARHSTGLRAFGFTLRQCYQQ>V<GCLLLFIAMGIFTFSAAVYSVEHDV-----436
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L262Vc.784C>G Inherited ArrhythmiaLQTSrs199472723SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
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