| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNQ2 | D212G | Epilepsy, benign neonatal | High | 9 | 19344764, 22455920 |
| KCNC3 | T428I | Cerebral palsy, ataxic | Medium | 9 | 24030952, 25981959 |
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 | -----SKGQVFATSAIRGIRFLQILRMLHV>D<RQGGTWRLLGSVVFIHRQELITTLYIGFLG | 272 |
| KCNQ2 | -----SQGNVFATSALRSLRFLQILRMIRM>D<RRGGTWKLLGSVVYAHSKELVTAWYIGFLC | 242 |
| KCNQ3 | -----NQGNVLA-TSLRSLRFLQILRMLRM>D<RRGGTWKLLGSAICAHSKELITAWYIGFLT | 271 |
| KCNQ4 | -----TQGNIFATSALRSMRFLQILRMVRM>D<RRGGTWKLLGSVVYAHSKELITAWYIGFLV | 248 |
| KCNQ5 | -----TQGNIFATSALRSLRFLQILRMVRM>D<RRGGTWKLLGSVVYAHSKELITAWYIGFLV | 276 |
| KCNA1 | --N-QKGEQATSLAILRVIRLVRVFRIFKL>S<RHSKGLQILGQTLKASMRELGLLIFFLFIG | 336 |
| KCNA10 | -----SAQQNMSLAILRIIRLVRVFRIFKL>S<RHSKGLQILGQTLKASMRELGLLIFFLFIG | 385 |
| KCNA2 | --DAQQGQQAMSLAILRVIRLVRVFRIFKL>S<RHSKGLQILGQTLKASMRELGLLIFFLFIG | 338 |
| KCNA3 | ----GNGQQAMSLAILRVIRLVRVFRIFKL>S<RHSKGLQILGQTLKASMRELGLLIFFLFIG | 408 |
| KCNA4 | --GNGQQQQAMSFAILRIIRLVRVFRIFKL>S<RHSKGLQILGHTLRASMRELGLLIFFLFIG | 488 |
| KCNA5 | GGGGQNGQQAMSLAILRVIRLVRVFRIFKL>S<RHSKGLQILGKTLQASMRELGLLIFFLFIG | 444 |
| KCNA6 | GGGGQNGQQAMSLAILRVIRLVRVFRIFKL>S<RHSKGLQILGKTLQASMRELGLLIFFLFIG | 386 |
| KCNA7 | ----GVGQQAMSLAILRVIRLVRVFRIFKL>S<RHSKGLQILGQTLRASMRELGLLIFFLFIG | 322 |
| KCNB1 | ---KSVLQFQNVRRVVQIFRIMRILRILKL>A<RHSTGLQSLGFTLRRSYNELGLLILFLAMG | 341 |
| KCNB2 | ---KSVLQFQNVRRVVQIFRIMRILRILKL>A<RHSTGLQSLGFTLRRSYNELGLLILFLAMG | 345 |
| KCNC1 | ---LSSKAAKDVLGFLRVVRFVRILRIFKL>T<RHFVGLRVLGHTLRASTNEFLLLIIFLALG | 355 |
| KCNC2 | ---LSSKAAKDVLGFLRVVRFVRILRIFKL>T<RHFVGLRVLGHTLRASTNEFLLLIIFLALG | 392 |
| KCNC3 | ---LSSKAAKDVLGFLRVVRFVRILRIFKL>T<RHFVGLRVLGHTLRASTNEFLLLIIFLALG | 458 |
| KCNC4 | ---LSSKAARDVLGFLRVVRFVRILRIFKL>T<RHFVGLRVLGHTLRASTNEFLLLIIFLALG | 391 |
| KCND1 | -------KNDDVSGAFVTLRVFRVFRIFKF>S<RHSQGLRILGYTLKSCASELGFLLFSLTMA | 336 |
| KCND2 | -------DNEDVSGAFVTLRVFRVFRIFKF>S<RHSQGLRILGYTLKSCASELGFLLFSLTMA | 334 |
| KCND3 | -------NNEDVSGAFVTLRVFRVFRIFKF>S<RHSQGLRILGYTLKSCASELGFLLFSLTMA | 331 |
| KCNF1 | --GARMMELTNVQQAVQALRIMRIARIFKL>A<RHSSGLQTLTYALKRSFKELGLLLMYLAVG | 334 |
| KCNG1 | KPGAGNSYLDKVGLVLRVLRALRILYVMRL>A<RHSLGLQTLGLTARRCTREFGLLLLFLCVA | 387 |
| KCNG2 | AGPGGTKLLERAGLVLRLLRALRVLYVMRL>A<RHSLGLRSLGLTMRRCAREFGLLLLFLCVA | 332 |
| KCNG3 | -FTGENSQLQRAGVTLRVLRMMRIFWVIKL>A<RHFIGLQTLGLTLKRCYREMVMLLVFICVA | 333 |
| KCNG4 | ERPSGSSYLEKVGLVLRVLRALRILYVMRL>A<RHSLGLQTLGLTVRRCTREFGLLLLFLAVA | 381 |
| KCNS1 | ---QGGKEFGHLGKVVQVFRLMRIFRVLKL>A<RHSTGLRSLGATLKHSYREVGILLLYLAVG | 386 |
| KCNS2 | ---ESTPTLANLGRVAQVLRLMRIFRILKL>A<RHSTGLRSLGATLKYSYKEVGLLLLYLSVG | 339 |
| KCNS3 | ---EESEDIENMGKVVQILRLMRIFRILKL>A<RHSVGLRSLGATLRHSYHEVGLLLLFLSVG | 334 |
| KCNV1 | ---QTTQELENVGRIVQVLRLLRALRMLKL>G<RHSTGLRSLGMTITQCYEEVGLLLLFLSVG | 356 |
| KCNV2 | QRGQTVGSVGKVGQVLRVMRLMRIFRILKL>A<RHSTGLRAFGFTLRQCYQQVGCLLLFIAMG | 421 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D242N | c.724G>A | Inherited Arrhythmia | LQTS | rs199472712 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. Hum Genet. 1998 103(3):290-4. 9799083 | ||
| 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 | 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 | 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 | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||
| p.D242Y | c.724G>T | Inherited Arrhythmia | LQTS | rs199472712 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome. J Cardiovasc Electrophysiol. 2009 20(8):859-65. 19490272 | ||
| Inherited Arrhythmia | LQTS | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||