Paralogue Annotation for KCNQ1 residue 260

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 260
Reference Amino Acid: Q - Glutamine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 260

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNV2Q409HParkinson disease, early onsetHigh9 26362251

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.



KCNQ1IRFLQILRMLHVDRQGGTWRLLGSVVFIHR>Q<ELITTLYIGFLGLIFSSYFVYLAEKDAVN-289
KCNQ2LRFLQILRMIRMDRRGGTWKLLGSVVYAHS>K<ELVTAWYIGFLCLILASFLVYLAEKGE---257
KCNQ3LRFLQILRMLRMDRRGGTWKLLGSAICAHS>K<ELITAWYIGFLTLILSSFLVYLVEKDVPEV289
KCNQ4MRFLQILRMVRMDRRGGTWKLLGSVVYAHS>K<ELITAWYIGFLVLIFASFLVYLAEKDA---263
KCNQ5LRFLQILRMVRMDRRGGTWKLLGSVVYAHS>K<ELITAWYIGFLVLIFSSFLVYLVEKDA---291
KCNA1IRLVRVFRIFKLSRHSKGLQILGQTLKASM>R<ELGLLIFFLFIGVILFSSAVYFAEAEE---351
KCNA10IRLVRVFRIFKLSRHSKGLQILGQTLKASM>R<ELGLLIFFLFIGVILFSSAVYFAEVDE---400
KCNA2IRLVRVFRIFKLSRHSKGLQILGQTLKASM>R<ELGLLIFFLFIGVILFSSAVYFAEADE---353
KCNA3IRLVRVFRIFKLSRHSKGLQILGQTLKASM>R<ELGLLIFFLFIGVILFSSAVYFAEADD---423
KCNA4IRLVRVFRIFKLSRHSKGLQILGHTLRASM>R<ELGLLIFFLFIGVILFSSAVYFAEADE---503
KCNA5IRLVRVFRIFKLSRHSKGLQILGKTLQASM>R<ELGLLIFFLFIGVILFSSAVYFAEADN---459
KCNA6IRLVRVFRIFKLSRHSKGLQILGKTLQASM>R<ELGLLIFFLFIGVILFSSAVYFAEADD---401
KCNA7IRLVRVFRIFKLSRHSKGLQILGQTLRASM>R<ELGLLIFFLFIGVVLFSSAVYFAEVDR---337
KCNB1FRIMRILRILKLARHSTGLQSLGFTLRRSY>N<ELGLLILFLAMGIMIFSSLVFFAEKDE---356
KCNB2FRIMRILRILKLARHSTGLQSLGFTLRRSY>N<ELGLLILFLAMGIMIFSSLVFFAEKDE---360
KCNC1VRFVRILRIFKLTRHFVGLRVLGHTLRAST>N<EFLLLIIFLALGVLIFATMIYYAERIGAQP373
KCNC2VRFVRILRIFKLTRHFVGLRVLGHTLRAST>N<EFLLLIIFLALGVLIFATMIYYAERVGAQP410
KCNC3VRFVRILRIFKLTRHFVGLRVLGHTLRAST>N<EFLLLIIFLALGVLIFATMIYYAERIGADP476
KCNC4VRFVRILRIFKLTRHFVGLRVLGHTLRAST>N<EFLLLIIFLALGVLIFATMIYYAERIGARP409
KCND1LRVFRVFRIFKFSRHSQGLRILGYTLKSCA>S<ELGFLLFSLTMAIIIFATVMFYAEKGT---351
KCND2LRVFRVFRIFKFSRHSQGLRILGYTLKSCA>S<ELGFLLFSLTMAIIIFATVMFYAEKGS---349
KCND3LRVFRVFRIFKFSRHSQGLRILGYTLKSCA>S<ELGFLLFSLTMAIIIFATVMFYAEKGS---346
KCNF1LRIMRIARIFKLARHSSGLQTLTYALKRSF>K<ELGLLLMYLAVGIFVFSALGYTMEQSH---349
KCNG1LRALRILYVMRLARHSLGLQTLGLTARRCT>R<EFGLLLLFLCVAIALFAPLLYVIENEM---402
KCNG2LRALRVLYVMRLARHSLGLRSLGLTMRRCA>R<EFGLLLLFLCVAMALFAPLVHLAEREL---347
KCNG3LRMMRIFWVIKLARHFIGLQTLGLTLKRCY>R<EMVMLLVFICVAMAIFSALSQLLEHGL---348
KCNG4LRALRILYVMRLARHSLGLQTLGLTVRRCT>R<EFGLLLLFLAVAITLFSPLVYVAEKES---396
KCNS1FRLMRIFRVLKLARHSTGLRSLGATLKHSY>R<EVGILLLYLAVGVSVFSGVAYTAEKEE---401
KCNS2LRLMRIFRILKLARHSTGLRSLGATLKYSY>K<EVGLLLLYLSVGISIFSVVAYTIEKEE---354
KCNS3LRLMRIFRILKLARHSVGLRSLGATLRHSY>H<EVGLLLLFLSVGISIFSVLIYSVEKDD---349
KCNV1LRLLRALRMLKLGRHSTGLRSLGMTITQCY>E<EVGLLLLFLSVGISIFSTVEYFAEQSI---371
KCNV2MRLMRIFRILKLARHSTGLRAFGFTLRQCY>Q<QVGCLLLFIAMGIFTFSAAVYSVEHDV---436
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 260 for KCNQ1.