No paralogue variants have been mapped to residue 266 for KCNQ1.
| KCNQ1 | LRMLHVDRQGGTWRLLGSVVFIHRQELITT>L<YIGFLGLIFSSYFVYLAEKDAVN-----ES | 291 |
| KCNQ2 | LRMIRMDRRGGTWKLLGSVVYAHSKELVTA>W<YIGFLCLILASFLVYLAEKGE--------- | 257 |
| KCNQ3 | LRMLRMDRRGGTWKLLGSAICAHSKELITA>W<YIGFLTLILSSFLVYLVEKDVPEVDAQGEE | 295 |
| KCNQ4 | LRMVRMDRRGGTWKLLGSVVYAHSKELITA>W<YIGFLVLIFASFLVYLAEKDA--------- | 263 |
| KCNQ5 | LRMVRMDRRGGTWKLLGSVVYAHSKELITA>W<YIGFLVLIFSSFLVYLVEKDA--------- | 291 |
| KCNA1 | FRIFKLSRHSKGLQILGQTLKASMRELGLL>I<FFLFIGVILFSSAVYFAEAEE--------- | 351 |
| KCNA10 | FRIFKLSRHSKGLQILGQTLKASMRELGLL>I<FFLFIGVILFSSAVYFAEVDE--------- | 400 |
| KCNA2 | FRIFKLSRHSKGLQILGQTLKASMRELGLL>I<FFLFIGVILFSSAVYFAEADE--------- | 353 |
| KCNA3 | FRIFKLSRHSKGLQILGQTLKASMRELGLL>I<FFLFIGVILFSSAVYFAEADD--------- | 423 |
| KCNA4 | FRIFKLSRHSKGLQILGHTLRASMRELGLL>I<FFLFIGVILFSSAVYFAEADE--------- | 503 |
| KCNA5 | FRIFKLSRHSKGLQILGKTLQASMRELGLL>I<FFLFIGVILFSSAVYFAEADN--------- | 459 |
| KCNA6 | FRIFKLSRHSKGLQILGKTLQASMRELGLL>I<FFLFIGVILFSSAVYFAEADD--------- | 401 |
| KCNA7 | FRIFKLSRHSKGLQILGQTLRASMRELGLL>I<FFLFIGVVLFSSAVYFAEVDR--------- | 337 |
| KCNB1 | LRILKLARHSTGLQSLGFTLRRSYNELGLL>I<LFLAMGIMIFSSLVFFAEKDE--------- | 356 |
| KCNB2 | LRILKLARHSTGLQSLGFTLRRSYNELGLL>I<LFLAMGIMIFSSLVFFAEKDE--------- | 360 |
| KCNC1 | LRIFKLTRHFVGLRVLGHTLRASTNEFLLL>I<IFLALGVLIFATMIYYAERIGAQPNDPSAS | 379 |
| KCNC2 | LRIFKLTRHFVGLRVLGHTLRASTNEFLLL>I<IFLALGVLIFATMIYYAERVGAQPNDPSAS | 416 |
| KCNC3 | LRIFKLTRHFVGLRVLGHTLRASTNEFLLL>I<IFLALGVLIFATMIYYAERIGADPDDILGS | 482 |
| KCNC4 | LRIFKLTRHFVGLRVLGHTLRASTNEFLLL>I<IFLALGVLIFATMIYYAERIGARPSDPRGN | 415 |
| KCND1 | FRIFKFSRHSQGLRILGYTLKSCASELGFL>L<FSLTMAIIIFATVMFYAEKGT--------- | 351 |
| KCND2 | FRIFKFSRHSQGLRILGYTLKSCASELGFL>L<FSLTMAIIIFATVMFYAEKGS--------- | 349 |
| KCND3 | FRIFKFSRHSQGLRILGYTLKSCASELGFL>L<FSLTMAIIIFATVMFYAEKGS--------- | 346 |
| KCNF1 | ARIFKLARHSSGLQTLTYALKRSFKELGLL>L<MYLAVGIFVFSALGYTMEQSH--------- | 349 |
| KCNG1 | LYVMRLARHSLGLQTLGLTARRCTREFGLL>L<LFLCVAIALFAPLLYVIENEM-----A--- | 403 |
| KCNG2 | LYVMRLARHSLGLRSLGLTMRRCAREFGLL>L<LFLCVAMALFAPLVHLAEREL-----G--- | 348 |
| KCNG3 | FWVIKLARHFIGLQTLGLTLKRCYREMVML>L<VFICVAMAIFSALSQLLEHGL-----DLET | 352 |
| KCNG4 | LYVMRLARHSLGLQTLGLTVRRCTREFGLL>L<LFLAVAITLFSPLVYVAEKES-----G--- | 397 |
| KCNS1 | FRVLKLARHSTGLRSLGATLKHSYREVGIL>L<LYLAVGVSVFSGVAYTAEKEE--------- | 401 |
| KCNS2 | FRILKLARHSTGLRSLGATLKYSYKEVGLL>L<LYLSVGISIFSVVAYTIEKEE--------- | 354 |
| KCNS3 | FRILKLARHSVGLRSLGATLRHSYHEVGLL>L<LFLSVGISIFSVLIYSVEKDD--------- | 349 |
| KCNV1 | LRMLKLGRHSTGLRSLGMTITQCYEEVGLL>L<LFLSVGISIFSTVEYFAEQSI--------- | 371 |
| KCNV2 | FRILKLARHSTGLRAFGFTLRQCYQQVGCL>L<LFIAMGIFTFSAAVYSVEHDV--------- | 436 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L266P | c.797T>C | Inherited Arrhythmia | LQTS | rs199473460 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| Inherited Arrhythmia | LQTS | Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638 | |||
| Inherited Arrhythmia | LQTS | Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125 | |||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| 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 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| p.L266R | c.797T>G | Unknown | SIFT: Polyphen: | ||
| Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||