No paralogue variants have been mapped to residue 274 for KCNQ1.
| KCNQ1 | QGGTWRLLGSVVFIHRQELITTLYIGFLGL>I<FSSYFVYLAEKDAVN-----ESGRVEFGSY | 299 |
| KCNQ2 | RGGTWKLLGSVVYAHSKELVTAWYIGFLCL>I<LASFLVYLAEKGE----------NDHFDTY | 264 |
| KCNQ3 | RGGTWKLLGSAICAHSKELITAWYIGFLTL>I<LSSFLVYLVEKDVPEVDAQGEEMKEEFETY | 303 |
| KCNQ4 | RGGTWKLLGSVVYAHSKELITAWYIGFLVL>I<FASFLVYLAEKDA----------NSDFSSY | 270 |
| KCNQ5 | RGGTWKLLGSVVYAHSKELITAWYIGFLVL>I<FSSFLVYLVEKDA----------NKEFSTY | 298 |
| KCNA1 | HSKGLQILGQTLKASMRELGLLIFFLFIGV>I<LFSSAVYFAEAEE---------AESHFSSI | 359 |
| KCNA10 | HSKGLQILGQTLKASMRELGLLIFFLFIGV>I<LFSSAVYFAEVDE---------PESHFSSI | 408 |
| KCNA2 | HSKGLQILGQTLKASMRELGLLIFFLFIGV>I<LFSSAVYFAEADE---------RESQFPSI | 361 |
| KCNA3 | HSKGLQILGQTLKASMRELGLLIFFLFIGV>I<LFSSAVYFAEADD---------PTSGFSSI | 431 |
| KCNA4 | HSKGLQILGHTLRASMRELGLLIFFLFIGV>I<LFSSAVYFAEADE---------PTTHFQSI | 511 |
| KCNA5 | HSKGLQILGKTLQASMRELGLLIFFLFIGV>I<LFSSAVYFAEADN---------QGTHFSSI | 467 |
| KCNA6 | HSKGLQILGKTLQASMRELGLLIFFLFIGV>I<LFSSAVYFAEADD---------DDSLFPSI | 409 |
| KCNA7 | HSKGLQILGQTLRASMRELGLLIFFLFIGV>V<LFSSAVYFAEVDR---------VDSHFTSI | 345 |
| KCNB1 | HSTGLQSLGFTLRRSYNELGLLILFLAMGI>M<IFSSLVFFAEKDE---------DDTKFKSI | 364 |
| KCNB2 | HSTGLQSLGFTLRRSYNELGLLILFLAMGI>M<IFSSLVFFAEKDE---------DATKFTSI | 368 |
| KCNC1 | HFVGLRVLGHTLRASTNEFLLLIIFLALGV>L<IFATMIYYAERIGAQPNDPSASEHTHFKNI | 387 |
| KCNC2 | HFVGLRVLGHTLRASTNEFLLLIIFLALGV>L<IFATMIYYAERVGAQPNDPSASEHTQFKNI | 424 |
| KCNC3 | HFVGLRVLGHTLRASTNEFLLLIIFLALGV>L<IFATMIYYAERIGADPDDILGSNHTYFKNI | 490 |
| KCNC4 | HFVGLRVLGHTLRASTNEFLLLIIFLALGV>L<IFATMIYYAERIGARPSDPRGNDHTDFKNI | 423 |
| KCND1 | HSQGLRILGYTLKSCASELGFLLFSLTMAI>I<IFATVMFYAEKGT---------NKTNFTSI | 359 |
| KCND2 | HSQGLRILGYTLKSCASELGFLLFSLTMAI>I<IFATVMFYAEKGS---------SASKFTSI | 357 |
| KCND3 | HSQGLRILGYTLKSCASELGFLLFSLTMAI>I<IFATVMFYAEKGS---------SASKFTSI | 354 |
| KCNF1 | HSSGLQTLTYALKRSFKELGLLLMYLAVGI>F<VFSALGYTMEQSH---------PETLFKSI | 357 |
| KCNG1 | HSLGLQTLGLTARRCTREFGLLLLFLCVAI>A<LFAPLLYVIENEM-----A---DSPEFTSI | 411 |
| KCNG2 | HSLGLRSLGLTMRRCAREFGLLLLFLCVAM>A<LFAPLVHLAEREL-----G---ARRDFSSV | 356 |
| KCNG3 | HFIGLQTLGLTLKRCYREMVMLLVFICVAM>A<IFSALSQLLEHGL-----DLETSNKDFTSI | 360 |
| KCNG4 | HSLGLQTLGLTVRRCTREFGLLLLFLAVAI>T<LFSPLVYVAEKES-----G---RVLEFTSI | 405 |
| KCNS1 | HSTGLRSLGATLKHSYREVGILLLYLAVGV>S<VFSGVAYTAEKEE----------DVGFNTI | 408 |
| KCNS2 | HSTGLRSLGATLKYSYKEVGLLLLYLSVGI>S<IFSVVAYTIEKEE----------NEGLATI | 361 |
| KCNS3 | HSVGLRSLGATLRHSYHEVGLLLLFLSVGI>S<IFSVLIYSVEKDD---------HTSSLTSI | 357 |
| KCNV1 | HSTGLRSLGMTITQCYEEVGLLLLFLSVGI>S<IFSTVEYFAEQSI---------PDTTFTSV | 379 |
| KCNV2 | HSTGLRAFGFTLRQCYQQVGCLLLFIAMGI>F<TFSAAVYSVEHDV---------PSTNFTTI | 444 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I274V | c.820A>G | Inherited Arrhythmia | LQTS | rs199472728 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| 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 | |||
| Inherited Arrhythmia | LQTS | Structural models for the KCNQ1 voltage-gated potassium channel. Biochemistry. 2007 46(49):14141-52. 17999538 | |||
| Inherited Arrhythmia | LQTS | Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695 | |||
| Other Cardiac Phenotype | Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283 | ||||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||