| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNQ2 | V250G | Epilepsy, benign neonatal | High | 9 | 11690625 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.
| KCNQ1 | LLGSVVFIHRQELITTLYIGFLGLIFSSYF>V<YLAEKDAVN-----ESGRVEFGSYADALWW | 305 |
| KCNQ2 | LLGSVVYAHSKELVTAWYIGFLCLILASFL>V<YLAEKGE----------NDHFDTYADALWW | 270 |
| KCNQ3 | LLGSAICAHSKELITAWYIGFLTLILSSFL>V<YLVEKDVPEVDAQGEEMKEEFETYADALWW | 309 |
| KCNQ4 | LLGSVVYAHSKELITAWYIGFLVLIFASFL>V<YLAEKDA----------NSDFSSYADSLWW | 276 |
| KCNQ5 | LLGSVVYAHSKELITAWYIGFLVLIFSSFL>V<YLVEKDA----------NKEFSTYADALWW | 304 |
| KCNA1 | ILGQTLKASMRELGLLIFFLFIGVILFSSA>V<YFAEAEE---------AESHFSSIPDAFWW | 365 |
| KCNA10 | ILGQTLKASMRELGLLIFFLFIGVILFSSA>V<YFAEVDE---------PESHFSSIPDGFWW | 414 |
| KCNA2 | ILGQTLKASMRELGLLIFFLFIGVILFSSA>V<YFAEADE---------RESQFPSIPDAFWW | 367 |
| KCNA3 | ILGQTLKASMRELGLLIFFLFIGVILFSSA>V<YFAEADD---------PTSGFSSIPDAFWW | 437 |
| KCNA4 | ILGHTLRASMRELGLLIFFLFIGVILFSSA>V<YFAEADE---------PTTHFQSIPDAFWW | 517 |
| KCNA5 | ILGKTLQASMRELGLLIFFLFIGVILFSSA>V<YFAEADN---------QGTHFSSIPDAFWW | 473 |
| KCNA6 | ILGKTLQASMRELGLLIFFLFIGVILFSSA>V<YFAEADD---------DDSLFPSIPDAFWW | 415 |
| KCNA7 | ILGQTLRASMRELGLLIFFLFIGVVLFSSA>V<YFAEVDR---------VDSHFTSIPESFWW | 351 |
| KCNB1 | SLGFTLRRSYNELGLLILFLAMGIMIFSSL>V<FFAEKDE---------DDTKFKSIPASFWW | 370 |
| KCNB2 | SLGFTLRRSYNELGLLILFLAMGIMIFSSL>V<FFAEKDE---------DATKFTSIPASFWW | 374 |
| KCNC1 | VLGHTLRASTNEFLLLIIFLALGVLIFATM>I<YYAERIGAQPNDPSASEHTHFKNIPIGFWW | 393 |
| KCNC2 | VLGHTLRASTNEFLLLIIFLALGVLIFATM>I<YYAERVGAQPNDPSASEHTQFKNIPIGFWW | 430 |
| KCNC3 | VLGHTLRASTNEFLLLIIFLALGVLIFATM>I<YYAERIGADPDDILGSNHTYFKNIPIGFWW | 496 |
| KCNC4 | VLGHTLRASTNEFLLLIIFLALGVLIFATM>I<YYAERIGARPSDPRGNDHTDFKNIPIGFWW | 429 |
| KCND1 | ILGYTLKSCASELGFLLFSLTMAIIIFATV>M<FYAEKGT---------NKTNFTSIPAAFWY | 365 |
| KCND2 | ILGYTLKSCASELGFLLFSLTMAIIIFATV>M<FYAEKGS---------SASKFTSIPAAFWY | 363 |
| KCND3 | ILGYTLKSCASELGFLLFSLTMAIIIFATV>M<FYAEKGS---------SASKFTSIPASFWY | 360 |
| KCNF1 | TLTYALKRSFKELGLLLMYLAVGIFVFSAL>G<YTMEQSH---------PETLFKSIPQSFWW | 363 |
| KCNG1 | TLGLTARRCTREFGLLLLFLCVAIALFAPL>L<YVIENEM-----A---DSPEFTSIPACYWW | 417 |
| KCNG2 | SLGLTMRRCAREFGLLLLFLCVAMALFAPL>V<HLAEREL-----G---ARRDFSSVPASYWW | 362 |
| KCNG3 | TLGLTLKRCYREMVMLLVFICVAMAIFSAL>S<QLLEHGL-----DLETSNKDFTSIPAACWW | 366 |
| KCNG4 | TLGLTVRRCTREFGLLLLFLAVAITLFSPL>V<YVAEKES-----G---RVLEFTSIPASYWW | 411 |
| KCNS1 | SLGATLKHSYREVGILLLYLAVGVSVFSGV>A<YTAEKEE----------DVGFNTIPACWWW | 414 |
| KCNS2 | SLGATLKYSYKEVGLLLLYLSVGISIFSVV>A<YTIEKEE----------NEGLATIPACWWW | 367 |
| KCNS3 | SLGATLRHSYHEVGLLLLFLSVGISIFSVL>I<YSVEKDD---------HTSSLTSIPICWWW | 363 |
| KCNV1 | SLGMTITQCYEEVGLLLLFLSVGISIFSTV>E<YFAEQSI---------PDTTFTSVPCAWWW | 385 |
| KCNV2 | AFGFTLRQCYQQVGCLLLFIAMGIFTFSAA>V<YSVEHDV---------PSTNFTTIPHSWWW | 450 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V280E | c.839T>A | Inherited Arrhythmia | LQTS | rs199473462 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| 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.V280A | c.839T>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||