No paralogue variants have been mapped to residue 281 for KCNQ1.
| KCNQ1 | LGSVVFIHRQELITTLYIGFLGLIFSSYFV>Y<LAEKDAVN-----ESGRVEFGSYADALWWG | 306 |
| KCNQ2 | LGSVVYAHSKELVTAWYIGFLCLILASFLV>Y<LAEKGE----------NDHFDTYADALWWG | 271 |
| KCNQ3 | LGSAICAHSKELITAWYIGFLTLILSSFLV>Y<LVEKDVPEVDAQGEEMKEEFETYADALWWG | 310 |
| KCNQ4 | LGSVVYAHSKELITAWYIGFLVLIFASFLV>Y<LAEKDA----------NSDFSSYADSLWWG | 277 |
| KCNQ5 | LGSVVYAHSKELITAWYIGFLVLIFSSFLV>Y<LVEKDA----------NKEFSTYADALWWG | 305 |
| KCNA1 | LGQTLKASMRELGLLIFFLFIGVILFSSAV>Y<FAEAEE---------AESHFSSIPDAFWWA | 366 |
| KCNA10 | LGQTLKASMRELGLLIFFLFIGVILFSSAV>Y<FAEVDE---------PESHFSSIPDGFWWA | 415 |
| KCNA2 | LGQTLKASMRELGLLIFFLFIGVILFSSAV>Y<FAEADE---------RESQFPSIPDAFWWA | 368 |
| KCNA3 | LGQTLKASMRELGLLIFFLFIGVILFSSAV>Y<FAEADD---------PTSGFSSIPDAFWWA | 438 |
| KCNA4 | LGHTLRASMRELGLLIFFLFIGVILFSSAV>Y<FAEADE---------PTTHFQSIPDAFWWA | 518 |
| KCNA5 | LGKTLQASMRELGLLIFFLFIGVILFSSAV>Y<FAEADN---------QGTHFSSIPDAFWWA | 474 |
| KCNA6 | LGKTLQASMRELGLLIFFLFIGVILFSSAV>Y<FAEADD---------DDSLFPSIPDAFWWA | 416 |
| KCNA7 | LGQTLRASMRELGLLIFFLFIGVVLFSSAV>Y<FAEVDR---------VDSHFTSIPESFWWA | 352 |
| KCNB1 | LGFTLRRSYNELGLLILFLAMGIMIFSSLV>F<FAEKDE---------DDTKFKSIPASFWWA | 371 |
| KCNB2 | LGFTLRRSYNELGLLILFLAMGIMIFSSLV>F<FAEKDE---------DATKFTSIPASFWWA | 375 |
| KCNC1 | LGHTLRASTNEFLLLIIFLALGVLIFATMI>Y<YAERIGAQPNDPSASEHTHFKNIPIGFWWA | 394 |
| KCNC2 | LGHTLRASTNEFLLLIIFLALGVLIFATMI>Y<YAERVGAQPNDPSASEHTQFKNIPIGFWWA | 431 |
| KCNC3 | LGHTLRASTNEFLLLIIFLALGVLIFATMI>Y<YAERIGADPDDILGSNHTYFKNIPIGFWWA | 497 |
| KCNC4 | LGHTLRASTNEFLLLIIFLALGVLIFATMI>Y<YAERIGARPSDPRGNDHTDFKNIPIGFWWA | 430 |
| KCND1 | LGYTLKSCASELGFLLFSLTMAIIIFATVM>F<YAEKGT---------NKTNFTSIPAAFWYT | 366 |
| KCND2 | LGYTLKSCASELGFLLFSLTMAIIIFATVM>F<YAEKGS---------SASKFTSIPAAFWYT | 364 |
| KCND3 | LGYTLKSCASELGFLLFSLTMAIIIFATVM>F<YAEKGS---------SASKFTSIPASFWYT | 361 |
| KCNF1 | LTYALKRSFKELGLLLMYLAVGIFVFSALG>Y<TMEQSH---------PETLFKSIPQSFWWA | 364 |
| KCNG1 | LGLTARRCTREFGLLLLFLCVAIALFAPLL>Y<VIENEM-----A---DSPEFTSIPACYWWA | 418 |
| KCNG2 | LGLTMRRCAREFGLLLLFLCVAMALFAPLV>H<LAEREL-----G---ARRDFSSVPASYWWA | 363 |
| KCNG3 | LGLTLKRCYREMVMLLVFICVAMAIFSALS>Q<LLEHGL-----DLETSNKDFTSIPAACWWV | 367 |
| KCNG4 | LGLTVRRCTREFGLLLLFLAVAITLFSPLV>Y<VAEKES-----G---RVLEFTSIPASYWWA | 412 |
| KCNS1 | LGATLKHSYREVGILLLYLAVGVSVFSGVA>Y<TAEKEE----------DVGFNTIPACWWWG | 415 |
| KCNS2 | LGATLKYSYKEVGLLLLYLSVGISIFSVVA>Y<TIEKEE----------NEGLATIPACWWWA | 368 |
| KCNS3 | LGATLRHSYHEVGLLLLFLSVGISIFSVLI>Y<SVEKDD---------HTSSLTSIPICWWWA | 364 |
| KCNV1 | LGMTITQCYEEVGLLLLFLSVGISIFSTVE>Y<FAEQSI---------PDTTFTSVPCAWWWA | 386 |
| KCNV2 | FGFTLRQCYQQVGCLLLFIAMGIFTFSAAV>Y<SVEHDV---------PSTNFTTIPHSWWWA | 451 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y281C | c.842A>G | Inherited Arrhythmia | LQTS | rs199472732 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999 99(4):529-33. 9927399 | ||
| 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 | Mechanisms of I(Ks) suppression in LQT1 mutants. Am J Physiol Heart Circ Physiol. 2000 279(6):H3003-11. 11087258 | |||