No paralogue variants have been mapped to residue 236 for KCNQ1.
| KCNQ1 | -----------SKGQVFATSAIRGIRFLQI>L<RMLHVDRQGGTWRLLGSVVFIHRQELITTL | 266 |
| KCNQ2 | -----------SQGNVFATSALRSLRFLQI>L<RMIRMDRRGGTWKLLGSVVYAHSKELVTAW | 236 |
| KCNQ3 | -----------NQGNVLA-TSLRSLRFLQI>L<RMLRMDRRGGTWKLLGSAICAHSKELITAW | 265 |
| KCNQ4 | -----------TQGNIFATSALRSMRFLQI>L<RMVRMDRRGGTWKLLGSVVYAHSKELITAW | 242 |
| KCNQ5 | -----------TQGNIFATSALRSLRFLQI>L<RMVRMDRRGGTWKLLGSVVYAHSKELITAW | 270 |
| KCNA1 | G-------N-QKGEQATSLAILRVIRLVRV>F<RIFKLSRHSKGLQILGQTLKASMRELGLLI | 330 |
| KCNA10 | EP---------SAQQNMSLAILRIIRLVRV>F<RIFKLSRHSKGLQILGQTLKASMRELGLLI | 379 |
| KCNA2 | E-------DAQQGQQAMSLAILRVIRLVRV>F<RIFKLSRHSKGLQILGQTLKASMRELGLLI | 332 |
| KCNA3 | ----------GNGQQAMSLAILRVIRLVRV>F<RIFKLSRHSKGLQILGQTLKASMRELGLLI | 402 |
| KCNA4 | GG------GNGQQQQAMSFAILRIIRLVRV>F<RIFKLSRHSKGLQILGHTLRASMRELGLLI | 482 |
| KCNA5 | ---PGGGGGGQNGQQAMSLAILRVIRLVRV>F<RIFKLSRHSKGLQILGKTLQASMRELGLLI | 438 |
| KCNA6 | EQQPASGGGGQNGQQAMSLAILRVIRLVRV>F<RIFKLSRHSKGLQILGKTLQASMRELGLLI | 380 |
| KCNA7 | ----------GVGQQAMSLAILRVIRLVRV>F<RIFKLSRHSKGLQILGQTLRASMRELGLLI | 316 |
| KCNB1 | N--------KSVLQFQNVRRVVQIFRIMRI>L<RILKLARHSTGLQSLGFTLRRSYNELGLLI | 335 |
| KCNB2 | N--------KSVLQFQNVRRVVQIFRIMRI>L<RILKLARHSTGLQSLGFTLRRSYNELGLLI | 339 |
| KCNC1 | ---------LSSKAAKDVLGFLRVVRFVRI>L<RIFKLTRHFVGLRVLGHTLRASTNEFLLLI | 349 |
| KCNC2 | ---------LSSKAAKDVLGFLRVVRFVRI>L<RIFKLTRHFVGLRVLGHTLRASTNEFLLLI | 386 |
| KCNC3 | ---------LSSKAAKDVLGFLRVVRFVRI>L<RIFKLTRHFVGLRVLGHTLRASTNEFLLLI | 452 |
| KCNC4 | ---------LSSKAARDVLGFLRVVRFVRI>L<RIFKLTRHFVGLRVLGHTLRASTNEFLLLI | 385 |
| KCND1 | -------------KNDDVSGAFVTLRVFRV>F<RIFKFSRHSQGLRILGYTLKSCASELGFLL | 330 |
| KCND2 | -------------DNEDVSGAFVTLRVFRV>F<RIFKFSRHSQGLRILGYTLKSCASELGFLL | 328 |
| KCND3 | -------------NNEDVSGAFVTLRVFRV>F<RIFKFSRHSQGLRILGYTLKSCASELGFLL | 325 |
| KCNF1 | --------GARMMELTNVQQAVQALRIMRI>A<RIFKLARHSSGLQTLTYALKRSFKELGLLL | 328 |
| KCNG1 | RR----KPGAGNSYLDKVGLVLRVLRALRI>L<YVMRLARHSLGLQTLGLTARRCTREFGLLL | 381 |
| KCNG2 | -A----AGPGGTKLLERAGLVLRLLRALRV>L<YVMRLARHSLGLRSLGLTMRRCAREFGLLL | 326 |
| KCNG3 | -------FTGENSQLQRAGVTLRVLRMMRI>F<WVIKLARHFIGLQTLGLTLKRCYREMVMLL | 327 |
| KCNG4 | DG----ERPSGSSYLEKVGLVLRVLRALRI>L<YVMRLARHSLGLQTLGLTVRRCTREFGLLL | 375 |
| KCNS1 | D--------QGGKEFGHLGKVVQVFRLMRI>F<RVLKLARHSTGLRSLGATLKHSYREVGILL | 380 |
| KCNS2 | V--------ESTPTLANLGRVAQVLRLMRI>F<RILKLARHSTGLRSLGATLKYSYKEVGLLL | 333 |
| KCNS3 | E--------EESEDIENMGKVVQILRLMRI>F<RILKLARHSVGLRSLGATLRHSYHEVGLLL | 328 |
| KCNV1 | S--------QTTQELENVGRIVQVLRLLRA>L<RMLKLGRHSTGLRSLGMTITQCYEEVGLLL | 350 |
| KCNV2 | GH----QRGQTVGSVGKVGQVLRVMRLMRI>F<RILKLARHSTGLRAFGFTLRQCYQQVGCLL | 415 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L236R | c.707T>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. Sci Rep. 2015 5:10009. doi: 10.1038/srep10009. 26066609 | ||
| p.Leu236Pro | c.707T>C | Unknown | SIFT: Polyphen: | ||