Paralogue Annotation for KCNQ1 residue 247

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 247
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 247

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA1G311SEpisodic ataxiaMedium9 9714564
KCNQ2T217ASeizures, benign infantileHigh9 23360469, 23621294

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.



KCNQ1SKGQVFATSAIRGIRFLQILRMLHVDRQGG>T<WRLLGSVVFIHRQELITTLYIGFLGLIFSS277
KCNQ2SQGNVFATSALRSLRFLQILRMIRMDRRGG>T<WKLLGSVVYAHSKELVTAWYIGFLCLILAS247
KCNQ3NQGNVLA-TSLRSLRFLQILRMLRMDRRGG>T<WKLLGSAICAHSKELITAWYIGFLTLILSS276
KCNQ4TQGNIFATSALRSMRFLQILRMVRMDRRGG>T<WKLLGSVVYAHSKELITAWYIGFLVLIFAS253
KCNQ5TQGNIFATSALRSLRFLQILRMVRMDRRGG>T<WKLLGSVVYAHSKELITAWYIGFLVLIFSS281
KCNA1KGEQATSLAILRVIRLVRVFRIFKLSRHSK>G<LQILGQTLKASMRELGLLIFFLFIGVILFS341
KCNA10SAQQNMSLAILRIIRLVRVFRIFKLSRHSK>G<LQILGQTLKASMRELGLLIFFLFIGVILFS390
KCNA2QGQQAMSLAILRVIRLVRVFRIFKLSRHSK>G<LQILGQTLKASMRELGLLIFFLFIGVILFS343
KCNA3NGQQAMSLAILRVIRLVRVFRIFKLSRHSK>G<LQILGQTLKASMRELGLLIFFLFIGVILFS413
KCNA4QQQQAMSFAILRIIRLVRVFRIFKLSRHSK>G<LQILGHTLRASMRELGLLIFFLFIGVILFS493
KCNA5NGQQAMSLAILRVIRLVRVFRIFKLSRHSK>G<LQILGKTLQASMRELGLLIFFLFIGVILFS449
KCNA6NGQQAMSLAILRVIRLVRVFRIFKLSRHSK>G<LQILGKTLQASMRELGLLIFFLFIGVILFS391
KCNA7VGQQAMSLAILRVIRLVRVFRIFKLSRHSK>G<LQILGQTLRASMRELGLLIFFLFIGVVLFS327
KCNB1VLQFQNVRRVVQIFRIMRILRILKLARHST>G<LQSLGFTLRRSYNELGLLILFLAMGIMIFS346
KCNB2VLQFQNVRRVVQIFRIMRILRILKLARHST>G<LQSLGFTLRRSYNELGLLILFLAMGIMIFS350
KCNC1SKAAKDVLGFLRVVRFVRILRIFKLTRHFV>G<LRVLGHTLRASTNEFLLLIIFLALGVLIFA360
KCNC2SKAAKDVLGFLRVVRFVRILRIFKLTRHFV>G<LRVLGHTLRASTNEFLLLIIFLALGVLIFA397
KCNC3SKAAKDVLGFLRVVRFVRILRIFKLTRHFV>G<LRVLGHTLRASTNEFLLLIIFLALGVLIFA463
KCNC4SKAARDVLGFLRVVRFVRILRIFKLTRHFV>G<LRVLGHTLRASTNEFLLLIIFLALGVLIFA396
KCND1--KNDDVSGAFVTLRVFRVFRIFKFSRHSQ>G<LRILGYTLKSCASELGFLLFSLTMAIIIFA341
KCND2--DNEDVSGAFVTLRVFRVFRIFKFSRHSQ>G<LRILGYTLKSCASELGFLLFSLTMAIIIFA339
KCND3--NNEDVSGAFVTLRVFRVFRIFKFSRHSQ>G<LRILGYTLKSCASELGFLLFSLTMAIIIFA336
KCNF1MMELTNVQQAVQALRIMRIARIFKLARHSS>G<LQTLTYALKRSFKELGLLLMYLAVGIFVFS339
KCNG1NSYLDKVGLVLRVLRALRILYVMRLARHSL>G<LQTLGLTARRCTREFGLLLLFLCVAIALFA392
KCNG2TKLLERAGLVLRLLRALRVLYVMRLARHSL>G<LRSLGLTMRRCAREFGLLLLFLCVAMALFA337
KCNG3NSQLQRAGVTLRVLRMMRIFWVIKLARHFI>G<LQTLGLTLKRCYREMVMLLVFICVAMAIFS338
KCNG4SSYLEKVGLVLRVLRALRILYVMRLARHSL>G<LQTLGLTVRRCTREFGLLLLFLAVAITLFS386
KCNS1GKEFGHLGKVVQVFRLMRIFRVLKLARHST>G<LRSLGATLKHSYREVGILLLYLAVGVSVFS391
KCNS2TPTLANLGRVAQVLRLMRIFRILKLARHST>G<LRSLGATLKYSYKEVGLLLLYLSVGISIFS344
KCNS3SEDIENMGKVVQILRLMRIFRILKLARHSV>G<LRSLGATLRHSYHEVGLLLLFLSVGISIFS339
KCNV1TQELENVGRIVQVLRLLRALRMLKLGRHST>G<LRSLGMTITQCYEEVGLLLLFLSVGISIFS361
KCNV2VGSVGKVGQVLRVMRLMRIFRILKLARHST>G<LRAFGFTLRQCYQQVGCLLLFIAMGIFTFS426
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 247 for KCNQ1.