No paralogue variants have been mapped to residue 268 for KCNQ1.
| KCNQ1 | MLHVDRQGGTWRLLGSVVFIHRQELITTLY>I<GFLGLIFSSYFVYLAEKDAVN-----ESGR | 293 |
| KCNQ2 | MIRMDRRGGTWKLLGSVVYAHSKELVTAWY>I<GFLCLILASFLVYLAEKGE----------N | 258 |
| KCNQ3 | MLRMDRRGGTWKLLGSAICAHSKELITAWY>I<GFLTLILSSFLVYLVEKDVPEVDAQGEEMK | 297 |
| KCNQ4 | MVRMDRRGGTWKLLGSVVYAHSKELITAWY>I<GFLVLIFASFLVYLAEKDA----------N | 264 |
| KCNQ5 | MVRMDRRGGTWKLLGSVVYAHSKELITAWY>I<GFLVLIFSSFLVYLVEKDA----------N | 292 |
| KCNA1 | IFKLSRHSKGLQILGQTLKASMRELGLLIF>F<LFIGVILFSSAVYFAEAEE---------AE | 353 |
| KCNA10 | IFKLSRHSKGLQILGQTLKASMRELGLLIF>F<LFIGVILFSSAVYFAEVDE---------PE | 402 |
| KCNA2 | IFKLSRHSKGLQILGQTLKASMRELGLLIF>F<LFIGVILFSSAVYFAEADE---------RE | 355 |
| KCNA3 | IFKLSRHSKGLQILGQTLKASMRELGLLIF>F<LFIGVILFSSAVYFAEADD---------PT | 425 |
| KCNA4 | IFKLSRHSKGLQILGHTLRASMRELGLLIF>F<LFIGVILFSSAVYFAEADE---------PT | 505 |
| KCNA5 | IFKLSRHSKGLQILGKTLQASMRELGLLIF>F<LFIGVILFSSAVYFAEADN---------QG | 461 |
| KCNA6 | IFKLSRHSKGLQILGKTLQASMRELGLLIF>F<LFIGVILFSSAVYFAEADD---------DD | 403 |
| KCNA7 | IFKLSRHSKGLQILGQTLRASMRELGLLIF>F<LFIGVVLFSSAVYFAEVDR---------VD | 339 |
| KCNB1 | ILKLARHSTGLQSLGFTLRRSYNELGLLIL>F<LAMGIMIFSSLVFFAEKDE---------DD | 358 |
| KCNB2 | ILKLARHSTGLQSLGFTLRRSYNELGLLIL>F<LAMGIMIFSSLVFFAEKDE---------DA | 362 |
| KCNC1 | IFKLTRHFVGLRVLGHTLRASTNEFLLLII>F<LALGVLIFATMIYYAERIGAQPNDPSASEH | 381 |
| KCNC2 | IFKLTRHFVGLRVLGHTLRASTNEFLLLII>F<LALGVLIFATMIYYAERVGAQPNDPSASEH | 418 |
| KCNC3 | IFKLTRHFVGLRVLGHTLRASTNEFLLLII>F<LALGVLIFATMIYYAERIGADPDDILGSNH | 484 |
| KCNC4 | IFKLTRHFVGLRVLGHTLRASTNEFLLLII>F<LALGVLIFATMIYYAERIGARPSDPRGNDH | 417 |
| KCND1 | IFKFSRHSQGLRILGYTLKSCASELGFLLF>S<LTMAIIIFATVMFYAEKGT---------NK | 353 |
| KCND2 | IFKFSRHSQGLRILGYTLKSCASELGFLLF>S<LTMAIIIFATVMFYAEKGS---------SA | 351 |
| KCND3 | IFKFSRHSQGLRILGYTLKSCASELGFLLF>S<LTMAIIIFATVMFYAEKGS---------SA | 348 |
| KCNF1 | IFKLARHSSGLQTLTYALKRSFKELGLLLM>Y<LAVGIFVFSALGYTMEQSH---------PE | 351 |
| KCNG1 | VMRLARHSLGLQTLGLTARRCTREFGLLLL>F<LCVAIALFAPLLYVIENEM-----A---DS | 405 |
| KCNG2 | VMRLARHSLGLRSLGLTMRRCAREFGLLLL>F<LCVAMALFAPLVHLAEREL-----G---AR | 350 |
| KCNG3 | VIKLARHFIGLQTLGLTLKRCYREMVMLLV>F<ICVAMAIFSALSQLLEHGL-----DLETSN | 354 |
| KCNG4 | VMRLARHSLGLQTLGLTVRRCTREFGLLLL>F<LAVAITLFSPLVYVAEKES-----G---RV | 399 |
| KCNS1 | VLKLARHSTGLRSLGATLKHSYREVGILLL>Y<LAVGVSVFSGVAYTAEKEE----------D | 402 |
| KCNS2 | ILKLARHSTGLRSLGATLKYSYKEVGLLLL>Y<LSVGISIFSVVAYTIEKEE----------N | 355 |
| KCNS3 | ILKLARHSVGLRSLGATLRHSYHEVGLLLL>F<LSVGISIFSVLIYSVEKDD---------HT | 351 |
| KCNV1 | MLKLGRHSTGLRSLGMTITQCYEEVGLLLL>F<LSVGISIFSTVEYFAEQSI---------PD | 373 |
| KCNV2 | ILKLARHSTGLRAFGFTLRQCYQQVGCLLL>F<IAMGIFTFSAAVYSVEHDV---------PS | 438 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I268S | c.803T>G | Inherited Arrhythmia | LQTS | rs199472725 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| p.I268V | c.802A>G | Putative Benign | SIFT: Polyphen: | ||