No paralogue variants have been mapped to residue 248 for KCNQ1.
| KCNQ1 | KGQVFATSAIRGIRFLQILRMLHVDRQGGT>W<RLLGSVVFIHRQELITTLYIGFLGLIFSSY | 278 |
| KCNQ2 | QGNVFATSALRSLRFLQILRMIRMDRRGGT>W<KLLGSVVYAHSKELVTAWYIGFLCLILASF | 248 |
| KCNQ3 | QGNVLA-TSLRSLRFLQILRMLRMDRRGGT>W<KLLGSAICAHSKELITAWYIGFLTLILSSF | 277 |
| KCNQ4 | QGNIFATSALRSMRFLQILRMVRMDRRGGT>W<KLLGSVVYAHSKELITAWYIGFLVLIFASF | 254 |
| KCNQ5 | QGNIFATSALRSLRFLQILRMVRMDRRGGT>W<KLLGSVVYAHSKELITAWYIGFLVLIFSSF | 282 |
| KCNA1 | GEQATSLAILRVIRLVRVFRIFKLSRHSKG>L<QILGQTLKASMRELGLLIFFLFIGVILFSS | 342 |
| KCNA10 | AQQNMSLAILRIIRLVRVFRIFKLSRHSKG>L<QILGQTLKASMRELGLLIFFLFIGVILFSS | 391 |
| KCNA2 | GQQAMSLAILRVIRLVRVFRIFKLSRHSKG>L<QILGQTLKASMRELGLLIFFLFIGVILFSS | 344 |
| KCNA3 | GQQAMSLAILRVIRLVRVFRIFKLSRHSKG>L<QILGQTLKASMRELGLLIFFLFIGVILFSS | 414 |
| KCNA4 | QQQAMSFAILRIIRLVRVFRIFKLSRHSKG>L<QILGHTLRASMRELGLLIFFLFIGVILFSS | 494 |
| KCNA5 | GQQAMSLAILRVIRLVRVFRIFKLSRHSKG>L<QILGKTLQASMRELGLLIFFLFIGVILFSS | 450 |
| KCNA6 | GQQAMSLAILRVIRLVRVFRIFKLSRHSKG>L<QILGKTLQASMRELGLLIFFLFIGVILFSS | 392 |
| KCNA7 | GQQAMSLAILRVIRLVRVFRIFKLSRHSKG>L<QILGQTLRASMRELGLLIFFLFIGVVLFSS | 328 |
| KCNB1 | LQFQNVRRVVQIFRIMRILRILKLARHSTG>L<QSLGFTLRRSYNELGLLILFLAMGIMIFSS | 347 |
| KCNB2 | LQFQNVRRVVQIFRIMRILRILKLARHSTG>L<QSLGFTLRRSYNELGLLILFLAMGIMIFSS | 351 |
| KCNC1 | KAAKDVLGFLRVVRFVRILRIFKLTRHFVG>L<RVLGHTLRASTNEFLLLIIFLALGVLIFAT | 361 |
| KCNC2 | KAAKDVLGFLRVVRFVRILRIFKLTRHFVG>L<RVLGHTLRASTNEFLLLIIFLALGVLIFAT | 398 |
| KCNC3 | KAAKDVLGFLRVVRFVRILRIFKLTRHFVG>L<RVLGHTLRASTNEFLLLIIFLALGVLIFAT | 464 |
| KCNC4 | KAARDVLGFLRVVRFVRILRIFKLTRHFVG>L<RVLGHTLRASTNEFLLLIIFLALGVLIFAT | 397 |
| KCND1 | -KNDDVSGAFVTLRVFRVFRIFKFSRHSQG>L<RILGYTLKSCASELGFLLFSLTMAIIIFAT | 342 |
| KCND2 | -DNEDVSGAFVTLRVFRVFRIFKFSRHSQG>L<RILGYTLKSCASELGFLLFSLTMAIIIFAT | 340 |
| KCND3 | -NNEDVSGAFVTLRVFRVFRIFKFSRHSQG>L<RILGYTLKSCASELGFLLFSLTMAIIIFAT | 337 |
| KCNF1 | MELTNVQQAVQALRIMRIARIFKLARHSSG>L<QTLTYALKRSFKELGLLLMYLAVGIFVFSA | 340 |
| KCNG1 | SYLDKVGLVLRVLRALRILYVMRLARHSLG>L<QTLGLTARRCTREFGLLLLFLCVAIALFAP | 393 |
| KCNG2 | KLLERAGLVLRLLRALRVLYVMRLARHSLG>L<RSLGLTMRRCAREFGLLLLFLCVAMALFAP | 338 |
| KCNG3 | SQLQRAGVTLRVLRMMRIFWVIKLARHFIG>L<QTLGLTLKRCYREMVMLLVFICVAMAIFSA | 339 |
| KCNG4 | SYLEKVGLVLRVLRALRILYVMRLARHSLG>L<QTLGLTVRRCTREFGLLLLFLAVAITLFSP | 387 |
| KCNS1 | KEFGHLGKVVQVFRLMRIFRVLKLARHSTG>L<RSLGATLKHSYREVGILLLYLAVGVSVFSG | 392 |
| KCNS2 | PTLANLGRVAQVLRLMRIFRILKLARHSTG>L<RSLGATLKYSYKEVGLLLLYLSVGISIFSV | 345 |
| KCNS3 | EDIENMGKVVQILRLMRIFRILKLARHSVG>L<RSLGATLRHSYHEVGLLLLFLSVGISIFSV | 340 |
| KCNV1 | QELENVGRIVQVLRLLRALRMLKLGRHSTG>L<RSLGMTITQCYEEVGLLLLFLSVGISIFST | 362 |
| KCNV2 | GSVGKVGQVLRVMRLMRIFRILKLARHSTG>L<RAFGFTLRQCYQQVGCLLLFIAMGIFTFSA | 427 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.W248C | c.744G>C | Inherited Arrhythmia | LQTS | rs199472714 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med. 2004 36 Suppl 1:53-63. 15176425 | ||
| p.W248R | c.742T>C | Inherited Arrhythmia | LQTS | rs199473459 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits. J Biol Chem. 1999 274(30):21063-70. 10409658 | ||
| Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | |||