No paralogue variants have been mapped to residue 239 for KCNQ1.
| KCNQ1 | --------SKGQVFATSAIRGIRFLQILRM>L<HVDRQGGTWRLLGSVVFIHRQELITTLYIG | 269 |
| KCNQ2 | --------SQGNVFATSALRSLRFLQILRM>I<RMDRRGGTWKLLGSVVYAHSKELVTAWYIG | 239 |
| KCNQ3 | --------NQGNVLA-TSLRSLRFLQILRM>L<RMDRRGGTWKLLGSAICAHSKELITAWYIG | 268 |
| KCNQ4 | --------TQGNIFATSALRSMRFLQILRM>V<RMDRRGGTWKLLGSVVYAHSKELITAWYIG | 245 |
| KCNQ5 | --------TQGNIFATSALRSLRFLQILRM>V<RMDRRGGTWKLLGSVVYAHSKELITAWYIG | 273 |
| KCNA1 | -----N-QKGEQATSLAILRVIRLVRVFRI>F<KLSRHSKGLQILGQTLKASMRELGLLIFFL | 333 |
| KCNA10 | --------SAQQNMSLAILRIIRLVRVFRI>F<KLSRHSKGLQILGQTLKASMRELGLLIFFL | 382 |
| KCNA2 | -----DAQQGQQAMSLAILRVIRLVRVFRI>F<KLSRHSKGLQILGQTLKASMRELGLLIFFL | 335 |
| KCNA3 | -------GNGQQAMSLAILRVIRLVRVFRI>F<KLSRHSKGLQILGQTLKASMRELGLLIFFL | 405 |
| KCNA4 | -----GNGQQQQAMSFAILRIIRLVRVFRI>F<KLSRHSKGLQILGHTLRASMRELGLLIFFL | 485 |
| KCNA5 | PGGGGGGQNGQQAMSLAILRVIRLVRVFRI>F<KLSRHSKGLQILGKTLQASMRELGLLIFFL | 441 |
| KCNA6 | PASGGGGQNGQQAMSLAILRVIRLVRVFRI>F<KLSRHSKGLQILGKTLQASMRELGLLIFFL | 383 |
| KCNA7 | -------GVGQQAMSLAILRVIRLVRVFRI>F<KLSRHSKGLQILGQTLRASMRELGLLIFFL | 319 |
| KCNB1 | ------KSVLQFQNVRRVVQIFRIMRILRI>L<KLARHSTGLQSLGFTLRRSYNELGLLILFL | 338 |
| KCNB2 | ------KSVLQFQNVRRVVQIFRIMRILRI>L<KLARHSTGLQSLGFTLRRSYNELGLLILFL | 342 |
| KCNC1 | ------LSSKAAKDVLGFLRVVRFVRILRI>F<KLTRHFVGLRVLGHTLRASTNEFLLLIIFL | 352 |
| KCNC2 | ------LSSKAAKDVLGFLRVVRFVRILRI>F<KLTRHFVGLRVLGHTLRASTNEFLLLIIFL | 389 |
| KCNC3 | ------LSSKAAKDVLGFLRVVRFVRILRI>F<KLTRHFVGLRVLGHTLRASTNEFLLLIIFL | 455 |
| KCNC4 | ------LSSKAARDVLGFLRVVRFVRILRI>F<KLTRHFVGLRVLGHTLRASTNEFLLLIIFL | 388 |
| KCND1 | ----------KNDDVSGAFVTLRVFRVFRI>F<KFSRHSQGLRILGYTLKSCASELGFLLFSL | 333 |
| KCND2 | ----------DNEDVSGAFVTLRVFRVFRI>F<KFSRHSQGLRILGYTLKSCASELGFLLFSL | 331 |
| KCND3 | ----------NNEDVSGAFVTLRVFRVFRI>F<KFSRHSQGLRILGYTLKSCASELGFLLFSL | 328 |
| KCNF1 | -----GARMMELTNVQQAVQALRIMRIARI>F<KLARHSSGLQTLTYALKRSFKELGLLLMYL | 331 |
| KCNG1 | ---KPGAGNSYLDKVGLVLRVLRALRILYV>M<RLARHSLGLQTLGLTARRCTREFGLLLLFL | 384 |
| KCNG2 | ---AGPGGTKLLERAGLVLRLLRALRVLYV>M<RLARHSLGLRSLGLTMRRCAREFGLLLLFL | 329 |
| KCNG3 | ----FTGENSQLQRAGVTLRVLRMMRIFWV>I<KLARHFIGLQTLGLTLKRCYREMVMLLVFI | 330 |
| KCNG4 | ---ERPSGSSYLEKVGLVLRVLRALRILYV>M<RLARHSLGLQTLGLTVRRCTREFGLLLLFL | 378 |
| KCNS1 | ------QGGKEFGHLGKVVQVFRLMRIFRV>L<KLARHSTGLRSLGATLKHSYREVGILLLYL | 383 |
| KCNS2 | ------ESTPTLANLGRVAQVLRLMRIFRI>L<KLARHSTGLRSLGATLKYSYKEVGLLLLYL | 336 |
| KCNS3 | ------EESEDIENMGKVVQILRLMRIFRI>L<KLARHSVGLRSLGATLRHSYHEVGLLLLFL | 331 |
| KCNV1 | ------QTTQELENVGRIVQVLRLLRALRM>L<KLGRHSTGLRSLGMTITQCYEEVGLLLLFL | 353 |
| KCNV2 | ---QRGQTVGSVGKVGQVLRVMRLMRIFRI>L<KLARHSTGLRAFGFTLRQCYQQVGCLLLFI | 418 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L239P | c.716T>C | Inherited Arrhythmia | LQTS | rs199473458 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| Inherited Arrhythmia | LQTS | Long QT syndrome-associated mutations in the voltage sensor of I(Ks) channels. Cell Physiol Biochem. 2009 24(1-2):11-6. 19590188 | |||