| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNQ4 | G287R | Deafness, autosomal dominant 2 | High | 9 | 21242547 |
| KCNV2 | G461R | Cone dystrophy with supernormal rod ERG | High | 9 | 17896311, 23115240 |
| KCNQ2 | G281R | Epileptic encephalopathy, neonatal | High | 9 | 24107868, 25590979 |
| KCNQ2 | G281W | Epileptic encephalopathy, early-onset | High | 9 | 25880994 |
| KCNB1 | G381R | Epileptic encephalopathy, early onset | High | 9 | 26648591 |
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 | ----ESGRVEFGSYADALWWGVVTVTTIGY>G<DKVPQTWVGKTIASCFSVFAISFFALPAGI | 346 |
| KCNQ2 | -------NDHFDTYADALWWGLITLTTIGY>G<DKYPQTWNGRLLAATFTLIGVSFFALPAGI | 311 |
| KCNQ3 | DAQGEEMKEEFETYADALWWGLITLATIGY>G<DKTPKTWEGRLIAATFSLIGVSFFALPAGI | 350 |
| KCNQ4 | -------NSDFSSYADSLWWGTITLTTIGY>G<DKTPHTWLGRVLAAGFALLGISFFALPAGI | 317 |
| KCNQ5 | -------NKEFSTYADALWWGTITLTTIGY>G<DKTPLTWLGRLLSAGFALLGISFFALPAGI | 345 |
| KCNA1 | ------AESHFSSIPDAFWWAVVSMTTVGY>G<DMYPVTIGGKIVGSLCAIAGVLTIALPVPV | 406 |
| KCNA10 | ------PESHFSSIPDGFWWAVVTMTTVGY>G<DMCPTTPGGKIVGTLCAIAGVLTIALPVPV | 455 |
| KCNA2 | ------RESQFPSIPDAFWWAVVSMTTVGY>G<DMVPTTIGGKIVGSLCAIAGVLTIALPVPV | 408 |
| KCNA3 | ------PTSGFSSIPDAFWWAVVTMTTVGY>G<DMHPVTIGGKIVGSLCAIAGVLTIALPVPV | 478 |
| KCNA4 | ------PTTHFQSIPDAFWWAVVTMTTVGY>G<DMKPITVGGKIVGSLCAIAGVLTIALPVPV | 558 |
| KCNA5 | ------QGTHFSSIPDAFWWAVVTMTTVGY>G<DMRPITVGGKIVGSLCAIAGVLTIALPVPV | 514 |
| KCNA6 | ------DDSLFPSIPDAFWWAVVTMTTVGY>G<DMYPMTVGGKIVGSLCAIAGVLTIALPVPV | 456 |
| KCNA7 | ------VDSHFTSIPESFWWAVVTMTTVGY>G<DMAPVTVGGKIVGSLCAIAGVLTISLPVPV | 392 |
| KCNB1 | ------DDTKFKSIPASFWWATITMTTVGY>G<DIYPKTLLGKIVGGLCCIAGVLVIALPIPI | 411 |
| KCNB2 | ------DATKFTSIPASFWWATITMTTVGY>G<DIYPKTLLGKIVGGLCCIAGVLVIALPIPI | 415 |
| KCNC1 | NDPSASEHTHFKNIPIGFWWAVVTMTTLGY>G<DMYPQTWSGMLVGALCALAGVLTIAMPVPV | 434 |
| KCNC2 | NDPSASEHTQFKNIPIGFWWAVVTMTTLGY>G<DMYPQTWSGMLVGALCALAGVLTIAMPVPV | 471 |
| KCNC3 | DDILGSNHTYFKNIPIGFWWAVVTMTTLGY>G<DMYPKTWSGMLVGALCALAGVLTIAMPVPV | 537 |
| KCNC4 | SDPRGNDHTDFKNIPIGFWWAVVTMTTLGY>G<DMYPKTWSGMLVGALCALAGVLTIAMPVPV | 470 |
| KCND1 | ------NKTNFTSIPAAFWYTIVTMTTLGY>G<DMVPSTIAGKIFGSICSLSGVLVIALPVPV | 406 |
| KCND2 | ------SASKFTSIPAAFWYTIVTMTTLGY>G<DMVPKTIAGKIFGSICSLSGVLVIALPVPV | 404 |
| KCND3 | ------SASKFTSIPASFWYTIVTMTTLGY>G<DMVPKTIAGKIFGSICSLSGVLVIALPVPV | 401 |
| KCNF1 | ------PETLFKSIPQSFWWAIITMTTVGY>G<DIYPKTTLGKLNAAISFLCGVIAIALPIHP | 404 |
| KCNG1 | --A---DSPEFTSIPACYWWAVITMTTVGY>G<DMVPRSTPGQVVALSSILSGILLMAFPVTS | 458 |
| KCNG2 | --G---ARRDFSSVPASYWWAVISMTTVGY>G<DMVPRSLPGQVVALSSILSGILLMAFPVTS | 403 |
| KCNG3 | --DLETSNKDFTSIPAACWWVIISMTTVGY>G<DMYPITVPGRILGGVCVVSGIVLLALPITF | 407 |
| KCNG4 | --G---RVLEFTSIPASYWWAIISMTTVGY>G<DMVPRSVPGQMVALSSILSGILIMAFPATS | 452 |
| KCNS1 | -------DVGFNTIPACWWWGTVSMTTVGY>G<DVVPVTVAGKLAASGCILGGILVVALPITI | 455 |
| KCNS2 | -------NEGLATIPACWWWATVSMTTVGY>G<DVVPGTTAGKLTASACILAGILVVVLPITL | 408 |
| KCNS3 | ------HTSSLTSIPICWWWATISMTTVGY>G<DTHPVTLAGKLIASTCIICGILVVALPITI | 404 |
| KCNV1 | ------PDTTFTSVPCAWWWATTSMTTVGY>G<DIRPDTTTGKIVAFMCILSGILVLALPIAI | 426 |
| KCNV2 | ------PSTNFTTIPHSWWWAAVSISTVGY>G<DMYPETHLGRFFAFLCIAFGIILNGMPISI | 491 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G316E | c.947G>A | Inherited Arrhythmia | LQTS | rs199472749 | 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 of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | |||
| Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
| Inherited Arrhythmia | LQTS | Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(4):417-26. 19808498 | |||
| Inherited Arrhythmia | LQTS | Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation. Pediatr Cardiol. 2011 32(1):102-4. doi: 10.1007/s00246-010-9821-7. 20981542 | |||
| p.G316R | c.946G>C | Inherited Arrhythmia | LQTS | rs104894255 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | ||
| p.G316V | c.947G>T | Inherited Arrhythmia | LQTS | rs199472749 | 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 | ||
| p.G316R | c.946G>A | Inherited Arrhythmia | LQTS | rs104894255 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||
| p.Gly316Trp | c.946G>T | Unknown | SIFT: Polyphen: | ||