No paralogue variants have been mapped to residue 249 for KCNQ1.
KCNQ1 | GQVFATSAIRGIRFLQILRMLHVDRQGGTW>R<LLGSVVFIHRQELITTLYIGFLGLIFSSYF | 279 |
KCNQ2 | GNVFATSALRSLRFLQILRMIRMDRRGGTW>K<LLGSVVYAHSKELVTAWYIGFLCLILASFL | 249 |
KCNQ3 | GNVLA-TSLRSLRFLQILRMLRMDRRGGTW>K<LLGSAICAHSKELITAWYIGFLTLILSSFL | 278 |
KCNQ4 | GNIFATSALRSMRFLQILRMVRMDRRGGTW>K<LLGSVVYAHSKELITAWYIGFLVLIFASFL | 255 |
KCNQ5 | GNIFATSALRSLRFLQILRMVRMDRRGGTW>K<LLGSVVYAHSKELITAWYIGFLVLIFSSFL | 283 |
KCNA1 | EQATSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGQTLKASMRELGLLIFFLFIGVILFSSA | 343 |
KCNA10 | QQNMSLAILRIIRLVRVFRIFKLSRHSKGL>Q<ILGQTLKASMRELGLLIFFLFIGVILFSSA | 392 |
KCNA2 | QQAMSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGQTLKASMRELGLLIFFLFIGVILFSSA | 345 |
KCNA3 | QQAMSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGQTLKASMRELGLLIFFLFIGVILFSSA | 415 |
KCNA4 | QQAMSFAILRIIRLVRVFRIFKLSRHSKGL>Q<ILGHTLRASMRELGLLIFFLFIGVILFSSA | 495 |
KCNA5 | QQAMSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGKTLQASMRELGLLIFFLFIGVILFSSA | 451 |
KCNA6 | QQAMSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGKTLQASMRELGLLIFFLFIGVILFSSA | 393 |
KCNA7 | QQAMSLAILRVIRLVRVFRIFKLSRHSKGL>Q<ILGQTLRASMRELGLLIFFLFIGVVLFSSA | 329 |
KCNB1 | QFQNVRRVVQIFRIMRILRILKLARHSTGL>Q<SLGFTLRRSYNELGLLILFLAMGIMIFSSL | 348 |
KCNB2 | QFQNVRRVVQIFRIMRILRILKLARHSTGL>Q<SLGFTLRRSYNELGLLILFLAMGIMIFSSL | 352 |
KCNC1 | AAKDVLGFLRVVRFVRILRIFKLTRHFVGL>R<VLGHTLRASTNEFLLLIIFLALGVLIFATM | 362 |
KCNC2 | AAKDVLGFLRVVRFVRILRIFKLTRHFVGL>R<VLGHTLRASTNEFLLLIIFLALGVLIFATM | 399 |
KCNC3 | AAKDVLGFLRVVRFVRILRIFKLTRHFVGL>R<VLGHTLRASTNEFLLLIIFLALGVLIFATM | 465 |
KCNC4 | AARDVLGFLRVVRFVRILRIFKLTRHFVGL>R<VLGHTLRASTNEFLLLIIFLALGVLIFATM | 398 |
KCND1 | KNDDVSGAFVTLRVFRVFRIFKFSRHSQGL>R<ILGYTLKSCASELGFLLFSLTMAIIIFATV | 343 |
KCND2 | DNEDVSGAFVTLRVFRVFRIFKFSRHSQGL>R<ILGYTLKSCASELGFLLFSLTMAIIIFATV | 341 |
KCND3 | NNEDVSGAFVTLRVFRVFRIFKFSRHSQGL>R<ILGYTLKSCASELGFLLFSLTMAIIIFATV | 338 |
KCNF1 | ELTNVQQAVQALRIMRIARIFKLARHSSGL>Q<TLTYALKRSFKELGLLLMYLAVGIFVFSAL | 341 |
KCNG1 | YLDKVGLVLRVLRALRILYVMRLARHSLGL>Q<TLGLTARRCTREFGLLLLFLCVAIALFAPL | 394 |
KCNG2 | LLERAGLVLRLLRALRVLYVMRLARHSLGL>R<SLGLTMRRCAREFGLLLLFLCVAMALFAPL | 339 |
KCNG3 | QLQRAGVTLRVLRMMRIFWVIKLARHFIGL>Q<TLGLTLKRCYREMVMLLVFICVAMAIFSAL | 340 |
KCNG4 | YLEKVGLVLRVLRALRILYVMRLARHSLGL>Q<TLGLTVRRCTREFGLLLLFLAVAITLFSPL | 388 |
KCNS1 | EFGHLGKVVQVFRLMRIFRVLKLARHSTGL>R<SLGATLKHSYREVGILLLYLAVGVSVFSGV | 393 |
KCNS2 | TLANLGRVAQVLRLMRIFRILKLARHSTGL>R<SLGATLKYSYKEVGLLLLYLSVGISIFSVV | 346 |
KCNS3 | DIENMGKVVQILRLMRIFRILKLARHSVGL>R<SLGATLRHSYHEVGLLLLFLSVGISIFSVL | 341 |
KCNV1 | ELENVGRIVQVLRLLRALRMLKLGRHSTGL>R<SLGMTITQCYEEVGLLLLFLSVGISIFSTV | 363 |
KCNV2 | SVGKVGQVLRVMRLMRIFRILKLARHSTGL>R<AFGFTLRQCYQQVGCLLLFIAMGIFTFSAA | 428 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R249K | c.746G>A | Putative Benign | rs371956290 | SIFT: tolerated Polyphen: possibly damaging |