No paralogue variants have been mapped to residue 218 for KCNQ1.
| KCNQ1 | IVVVASMVVLCVG----------------S>K<GQVFATSAIRGIRFLQILRMLHVDRQGGTW | 248 |
| KCNQ2 | MVLIASIAVLAAG----------------S>Q<GNVFATSALRSLRFLQILRMIRMDRRGGTW | 218 |
| KCNQ3 | FVLIASVPVVAVG----------------N>Q<GNVLA-TSLRSLRFLQILRMLRMDRRGGTW | 247 |
| KCNQ4 | IVFVASVAVIAAG----------------T>Q<GNIFATSALRSMRFLQILRMVRMDRRGGTW | 224 |
| KCNQ5 | IVLIASIAVVSAK----------------T>Q<GNIFATSALRSLRFLQILRMVRMDRRGGTW | 252 |
| KCNA1 | VAIIPYFITLGTEIAEQEG-------N-QK>G<EQATSLAILRVIRLVRVFRIFKLSRHSKGL | 312 |
| KCNA10 | ISIIPYFATLITELVQETEP---------S>A<QQNMSLAILRIIRLVRVFRIFKLSRHSKGL | 361 |
| KCNA2 | VAIIPYFITLGTELAEKPE-------DAQQ>G<QQAMSLAILRVIRLVRVFRIFKLSRHSKGL | 314 |
| KCNA3 | VAIIPYFITLGTELAERQ----------GN>G<QQAMSLAILRVIRLVRVFRIFKLSRHSKGL | 384 |
| KCNA4 | VSILPYFITLGTDLAQQQGG------GNGQ>Q<QQAMSFAILRIIRLVRVFRIFKLSRHSKGL | 464 |
| KCNA5 | VAIFPYFITLGTELAEQQ---PGGGGGGQN>G<QQAMSLAILRVIRLVRVFRIFKLSRHSKGL | 420 |
| KCNA6 | VAIFPYFITLGTELVQQQEQQPASGGGGQN>G<QQAMSLAILRVIRLVRVFRIFKLSRHSKGL | 362 |
| KCNA7 | VAILPYFVALGTELARQR----------GV>G<QQAMSLAILRVIRLVRVFRIFKLSRHSKGL | 298 |
| KCNB1 | LAILPYYVTIFLTES---N--------KSV>L<QFQNVRRVVQIFRIMRILRILKLARHSTGL | 317 |
| KCNB2 | LAILPYYVTIFLTES---N--------KSV>L<QFQNVRRVVQIFRIMRILRILKLARHSTGL | 321 |
| KCNC1 | VAILPFYLEVGLSG-------------LSS>K<AAKDVLGFLRVVRFVRILRIFKLTRHFVGL | 331 |
| KCNC2 | VAILPFYLEVGLSG-------------LSS>K<AAKDVLGFLRVVRFVRILRIFKLTRHFVGL | 368 |
| KCNC3 | VAILPFYLEVGLSG-------------LSS>K<AAKDVLGFLRVVRFVRILRIFKLTRHFVGL | 434 |
| KCNC4 | VAILPFYLEVGLSG-------------LSS>K<AARDVLGFLRVVRFVRILRIFKLTRHFVGL | 367 |
| KCND1 | VAILPYYIGLLVP----------------->-<KNDDVSGAFVTLRVFRVFRIFKFSRHSQGL | 312 |
| KCND2 | VAILPYYIGLVMT----------------->-<DNEDVSGAFVTLRVFRVFRIFKFSRHSQGL | 310 |
| KCND3 | VAIMPYYIGLVMT----------------->-<NNEDVSGAFVTLRVFRVFRIFKFSRHSQGL | 307 |
| KCNF1 | LAILPFYVSLTLTHL-----------GARM>M<ELTNVQQAVQALRIMRIARIFKLARHSSGL | 310 |
| KCNG1 | VAILPYYITLLVDGAAAGRR----KPGAGN>S<YLDKVGLVLRVLRALRILYVMRLARHSLGL | 363 |
| KCNG2 | LALLPFYVSLLLGL-----A----AGPGGT>K<LLERAGLVLRLLRALRVLYVMRLARHSLGL | 308 |
| KCNG3 | LAITPYYISVLMTV-----------FTGEN>S<QLQRAGVTLRVLRMMRIFWVIKLARHFIGL | 309 |
| KCNG4 | LAISPYYVSLAVSEEPPEDG----ERPSGS>S<YLEKVGLVLRVLRALRILYVMRLARHSLGL | 357 |
| KCNS1 | VSVLPFYLTLLAGVALG-D--------QGG>K<EFGHLGKVVQVFRLMRIFRVLKLARHSTGL | 362 |
| KCNS2 | MSIVPFYITLVVNLV---V--------EST>P<TLANLGRVAQVLRLMRIFRILKLARHSTGL | 315 |
| KCNS3 | VSIIPFYATLAVDTK---E--------EES>E<DIENMGKVVQILRLMRIFRILKLARHSVGL | 310 |
| KCNV1 | LAILPFYITLLVESLSG-S--------QTT>Q<ELENVGRIVQVLRLLRALRMLKLGRHSTGL | 332 |
| KCNV2 | VAILPLYLQLLLECFTGEGH----QRGQTV>G<SVGKVGQVLRVMRLMRIFRILKLARHSTGL | 397 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K218E | c.652A>G | Other Cardiac Phenotype | rs36210419 | SIFT: tolerated Polyphen: benign | |
| Reports | Other Cardiac Phenotype | Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064 | |||