Paralogue Annotation for KCNQ1 residue 249

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 249
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 249

No paralogue variants have been mapped to residue 249 for KCNQ1.



KCNQ1GQVFATSAIRGIRFLQILRMLHVDRQGGTW>R<LLGSVVFIHRQELITTLYIGFLGLIFSSYF279
KCNQ2GNVFATSALRSLRFLQILRMIRMDRRGGTW>K<LLGSVVYAHSKELVTAWYIGFLCLILASFL249
KCNQ3GNVLA-TSLRSLRFLQILRMLRMDRRGGTW>K<LLGSAICAHSKELITAWYIGFLTLILSSFL278
KCNQ4GNIFATSALRSMRFLQILRMVRMDRRGGTW>K<LLGSVVYAHSKELITAWYIGFLVLIFASFL255
KCNQ5GNIFATSALRSLRFLQILRMVRMDRRGGTW>K<LLGSVVYAHSKELITAWYIGFLVLIFSSFL283
KCNA1EQATSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGQTLKASMRELGLLIFFLFIGVILFSSA343
KCNA10QQNMSLAILRIIRLVRVFRIFKLSRHSKGL>Q<ILGQTLKASMRELGLLIFFLFIGVILFSSA392
KCNA2QQAMSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGQTLKASMRELGLLIFFLFIGVILFSSA345
KCNA3QQAMSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGQTLKASMRELGLLIFFLFIGVILFSSA415
KCNA4QQAMSFAILRIIRLVRVFRIFKLSRHSKGL>Q<ILGHTLRASMRELGLLIFFLFIGVILFSSA495
KCNA5QQAMSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGKTLQASMRELGLLIFFLFIGVILFSSA451
KCNA6QQAMSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGKTLQASMRELGLLIFFLFIGVILFSSA393
KCNA7QQAMSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGQTLRASMRELGLLIFFLFIGVVLFSSA329
KCNB1QFQNVRRVVQIFRIMRILRILKLARHSTGL>Q<SLGFTLRRSYNELGLLILFLAMGIMIFSSL348
KCNB2QFQNVRRVVQIFRIMRILRILKLARHSTGL>Q<SLGFTLRRSYNELGLLILFLAMGIMIFSSL352
KCNC1AAKDVLGFLRVVRFVRILRIFKLTRHFVGL>R<VLGHTLRASTNEFLLLIIFLALGVLIFATM362
KCNC2AAKDVLGFLRVVRFVRILRIFKLTRHFVGL>R<VLGHTLRASTNEFLLLIIFLALGVLIFATM399
KCNC3AAKDVLGFLRVVRFVRILRIFKLTRHFVGL>R<VLGHTLRASTNEFLLLIIFLALGVLIFATM465
KCNC4AARDVLGFLRVVRFVRILRIFKLTRHFVGL>R<VLGHTLRASTNEFLLLIIFLALGVLIFATM398
KCND1KNDDVSGAFVTLRVFRVFRIFKFSRHSQGL>R<ILGYTLKSCASELGFLLFSLTMAIIIFATV343
KCND2DNEDVSGAFVTLRVFRVFRIFKFSRHSQGL>R<ILGYTLKSCASELGFLLFSLTMAIIIFATV341
KCND3NNEDVSGAFVTLRVFRVFRIFKFSRHSQGL>R<ILGYTLKSCASELGFLLFSLTMAIIIFATV338
KCNF1ELTNVQQAVQALRIMRIARIFKLARHSSGL>Q<TLTYALKRSFKELGLLLMYLAVGIFVFSAL341
KCNG1YLDKVGLVLRVLRALRILYVMRLARHSLGL>Q<TLGLTARRCTREFGLLLLFLCVAIALFAPL394
KCNG2LLERAGLVLRLLRALRVLYVMRLARHSLGL>R<SLGLTMRRCAREFGLLLLFLCVAMALFAPL339
KCNG3QLQRAGVTLRVLRMMRIFWVIKLARHFIGL>Q<TLGLTLKRCYREMVMLLVFICVAMAIFSAL340
KCNG4YLEKVGLVLRVLRALRILYVMRLARHSLGL>Q<TLGLTVRRCTREFGLLLLFLAVAITLFSPL388
KCNS1EFGHLGKVVQVFRLMRIFRVLKLARHSTGL>R<SLGATLKHSYREVGILLLYLAVGVSVFSGV393
KCNS2TLANLGRVAQVLRLMRIFRILKLARHSTGL>R<SLGATLKYSYKEVGLLLLYLSVGISIFSVV346
KCNS3DIENMGKVVQILRLMRIFRILKLARHSVGL>R<SLGATLRHSYHEVGLLLLFLSVGISIFSVL341
KCNV1ELENVGRIVQVLRLLRALRMLKLGRHSTGL>R<SLGMTITQCYEEVGLLLLFLSVGISIFSTV363
KCNV2SVGKVGQVLRVMRLMRIFRILKLARHSTGL>R<AFGFTLRQCYQQVGCLLLFIAMGIFTFSAA428
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R249Kc.746G>A Putative BenignSIFT: tolerated
Polyphen: possibly damaging