No paralogue variants have been mapped to residue 282 for KCNQ1.
| KCNQ1 | GSVVFIHRQELITTLYIGFLGLIFSSYFVY>L<AEKDAVN-----ESGRVEFGSYADALWWGV | 307 |
| KCNQ2 | GSVVYAHSKELVTAWYIGFLCLILASFLVY>L<AEKGE----------NDHFDTYADALWWGL | 272 |
| KCNQ3 | GSAICAHSKELITAWYIGFLTLILSSFLVY>L<VEKDVPEVDAQGEEMKEEFETYADALWWGL | 311 |
| KCNQ4 | GSVVYAHSKELITAWYIGFLVLIFASFLVY>L<AEKDA----------NSDFSSYADSLWWGT | 278 |
| KCNQ5 | GSVVYAHSKELITAWYIGFLVLIFSSFLVY>L<VEKDA----------NKEFSTYADALWWGT | 306 |
| KCNA1 | GQTLKASMRELGLLIFFLFIGVILFSSAVY>F<AEAEE---------AESHFSSIPDAFWWAV | 367 |
| KCNA10 | GQTLKASMRELGLLIFFLFIGVILFSSAVY>F<AEVDE---------PESHFSSIPDGFWWAV | 416 |
| KCNA2 | GQTLKASMRELGLLIFFLFIGVILFSSAVY>F<AEADE---------RESQFPSIPDAFWWAV | 369 |
| KCNA3 | GQTLKASMRELGLLIFFLFIGVILFSSAVY>F<AEADD---------PTSGFSSIPDAFWWAV | 439 |
| KCNA4 | GHTLRASMRELGLLIFFLFIGVILFSSAVY>F<AEADE---------PTTHFQSIPDAFWWAV | 519 |
| KCNA5 | GKTLQASMRELGLLIFFLFIGVILFSSAVY>F<AEADN---------QGTHFSSIPDAFWWAV | 475 |
| KCNA6 | GKTLQASMRELGLLIFFLFIGVILFSSAVY>F<AEADD---------DDSLFPSIPDAFWWAV | 417 |
| KCNA7 | GQTLRASMRELGLLIFFLFIGVVLFSSAVY>F<AEVDR---------VDSHFTSIPESFWWAV | 353 |
| KCNB1 | GFTLRRSYNELGLLILFLAMGIMIFSSLVF>F<AEKDE---------DDTKFKSIPASFWWAT | 372 |
| KCNB2 | GFTLRRSYNELGLLILFLAMGIMIFSSLVF>F<AEKDE---------DATKFTSIPASFWWAT | 376 |
| KCNC1 | GHTLRASTNEFLLLIIFLALGVLIFATMIY>Y<AERIGAQPNDPSASEHTHFKNIPIGFWWAV | 395 |
| KCNC2 | GHTLRASTNEFLLLIIFLALGVLIFATMIY>Y<AERVGAQPNDPSASEHTQFKNIPIGFWWAV | 432 |
| KCNC3 | GHTLRASTNEFLLLIIFLALGVLIFATMIY>Y<AERIGADPDDILGSNHTYFKNIPIGFWWAV | 498 |
| KCNC4 | GHTLRASTNEFLLLIIFLALGVLIFATMIY>Y<AERIGARPSDPRGNDHTDFKNIPIGFWWAV | 431 |
| KCND1 | GYTLKSCASELGFLLFSLTMAIIIFATVMF>Y<AEKGT---------NKTNFTSIPAAFWYTI | 367 |
| KCND2 | GYTLKSCASELGFLLFSLTMAIIIFATVMF>Y<AEKGS---------SASKFTSIPAAFWYTI | 365 |
| KCND3 | GYTLKSCASELGFLLFSLTMAIIIFATVMF>Y<AEKGS---------SASKFTSIPASFWYTI | 362 |
| KCNF1 | TYALKRSFKELGLLLMYLAVGIFVFSALGY>T<MEQSH---------PETLFKSIPQSFWWAI | 365 |
| KCNG1 | GLTARRCTREFGLLLLFLCVAIALFAPLLY>V<IENEM-----A---DSPEFTSIPACYWWAV | 419 |
| KCNG2 | GLTMRRCAREFGLLLLFLCVAMALFAPLVH>L<AEREL-----G---ARRDFSSVPASYWWAV | 364 |
| KCNG3 | GLTLKRCYREMVMLLVFICVAMAIFSALSQ>L<LEHGL-----DLETSNKDFTSIPAACWWVI | 368 |
| KCNG4 | GLTVRRCTREFGLLLLFLAVAITLFSPLVY>V<AEKES-----G---RVLEFTSIPASYWWAI | 413 |
| KCNS1 | GATLKHSYREVGILLLYLAVGVSVFSGVAY>T<AEKEE----------DVGFNTIPACWWWGT | 416 |
| KCNS2 | GATLKYSYKEVGLLLLYLSVGISIFSVVAY>T<IEKEE----------NEGLATIPACWWWAT | 369 |
| KCNS3 | GATLRHSYHEVGLLLLFLSVGISIFSVLIY>S<VEKDD---------HTSSLTSIPICWWWAT | 365 |
| KCNV1 | GMTITQCYEEVGLLLLFLSVGISIFSTVEY>F<AEQSI---------PDTTFTSVPCAWWWAT | 387 |
| KCNV2 | GFTLRQCYQQVGCLLLFIAMGIFTFSAAVY>S<VEHDV---------PSTNFTTIPHSWWWAA | 452 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L282P | c.845T>C | Inherited Arrhythmia | LQTS | rs199472733 | 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 | ||