| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNA5 | P488S | Atrial fibrillation | High | 9 | 23264583 |
| KCNQ2 | P285H | Ohtahara syndrome | High | 9 | 23621294 |
| KCNQ4 | P291S | Hearing loss, non-syndromic, autosomal dominant | High | 9 | 23717403 |
| KCNQ4 | P291L | Hearing loss, non-syndromic, autosomal dominant | High | 9 | 23717403 |
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 | ESGRVEFGSYADALWWGVVTVTTIGYGDKV>P<QTWVGKTIASCFSVFAISFFALPAGILGSG | 350 |
| KCNQ2 | ---NDHFDTYADALWWGLITLTTIGYGDKY>P<QTWNGRLLAATFTLIGVSFFALPAGILGSG | 315 |
| KCNQ3 | EEMKEEFETYADALWWGLITLATIGYGDKT>P<KTWEGRLIAATFSLIGVSFFALPAGILGSG | 354 |
| KCNQ4 | ---NSDFSSYADSLWWGTITLTTIGYGDKT>P<HTWLGRVLAAGFALLGISFFALPAGILGSG | 321 |
| KCNQ5 | ---NKEFSTYADALWWGTITLTTIGYGDKT>P<LTWLGRLLSAGFALLGISFFALPAGILGSG | 349 |
| KCNA1 | --AESHFSSIPDAFWWAVVSMTTVGYGDMY>P<VTIGGKIVGSLCAIAGVLTIALPVPVIVSN | 410 |
| KCNA10 | --PESHFSSIPDGFWWAVVTMTTVGYGDMC>P<TTPGGKIVGTLCAIAGVLTIALPVPVIVSN | 459 |
| KCNA2 | --RESQFPSIPDAFWWAVVSMTTVGYGDMV>P<TTIGGKIVGSLCAIAGVLTIALPVPVIVSN | 412 |
| KCNA3 | --PTSGFSSIPDAFWWAVVTMTTVGYGDMH>P<VTIGGKIVGSLCAIAGVLTIALPVPVIVSN | 482 |
| KCNA4 | --PTTHFQSIPDAFWWAVVTMTTVGYGDMK>P<ITVGGKIVGSLCAIAGVLTIALPVPVIVSN | 562 |
| KCNA5 | --QGTHFSSIPDAFWWAVVTMTTVGYGDMR>P<ITVGGKIVGSLCAIAGVLTIALPVPVIVSN | 518 |
| KCNA6 | --DDSLFPSIPDAFWWAVVTMTTVGYGDMY>P<MTVGGKIVGSLCAIAGVLTIALPVPVIVSN | 460 |
| KCNA7 | --VDSHFTSIPESFWWAVVTMTTVGYGDMA>P<VTVGGKIVGSLCAIAGVLTISLPVPVIVSN | 396 |
| KCNB1 | --DDTKFKSIPASFWWATITMTTVGYGDIY>P<KTLLGKIVGGLCCIAGVLVIALPIPIIVNN | 415 |
| KCNB2 | --DATKFTSIPASFWWATITMTTVGYGDIY>P<KTLLGKIVGGLCCIAGVLVIALPIPIIVNN | 419 |
| KCNC1 | ASEHTHFKNIPIGFWWAVVTMTTLGYGDMY>P<QTWSGMLVGALCALAGVLTIAMPVPVIVNN | 438 |
| KCNC2 | ASEHTQFKNIPIGFWWAVVTMTTLGYGDMY>P<QTWSGMLVGALCALAGVLTIAMPVPVIVNN | 475 |
| KCNC3 | GSNHTYFKNIPIGFWWAVVTMTTLGYGDMY>P<KTWSGMLVGALCALAGVLTIAMPVPVIVNN | 541 |
| KCNC4 | GNDHTDFKNIPIGFWWAVVTMTTLGYGDMY>P<KTWSGMLVGALCALAGVLTIAMPVPVIVNN | 474 |
| KCND1 | --NKTNFTSIPAAFWYTIVTMTTLGYGDMV>P<STIAGKIFGSICSLSGVLVIALPVPVIVSN | 410 |
| KCND2 | --SASKFTSIPAAFWYTIVTMTTLGYGDMV>P<KTIAGKIFGSICSLSGVLVIALPVPVIVSN | 408 |
| KCND3 | --SASKFTSIPASFWYTIVTMTTLGYGDMV>P<KTIAGKIFGSICSLSGVLVIALPVPVIVSN | 405 |
| KCNF1 | --PETLFKSIPQSFWWAIITMTTVGYGDIY>P<KTTLGKLNAAISFLCGVIAIALPIHPIINN | 408 |
| KCNG1 | --DSPEFTSIPACYWWAVITMTTVGYGDMV>P<RSTPGQVVALSSILSGILLMAFPVTSIFHT | 462 |
| KCNG2 | --ARRDFSSVPASYWWAVISMTTVGYGDMV>P<RSLPGQVVALSSILSGILLMAFPVTSIFHT | 407 |
| KCNG3 | ETSNKDFTSIPAACWWVIISMTTVGYGDMY>P<ITVPGRILGGVCVVSGIVLLALPITFIYHS | 411 |
| KCNG4 | --RVLEFTSIPASYWWAIISMTTVGYGDMV>P<RSVPGQMVALSSILSGILIMAFPATSIFHT | 456 |
| KCNS1 | ---DVGFNTIPACWWWGTVSMTTVGYGDVV>P<VTVAGKLAASGCILGGILVVALPITIIFNK | 459 |
| KCNS2 | ---NEGLATIPACWWWATVSMTTVGYGDVV>P<GTTAGKLTASACILAGILVVVLPITLIFNK | 412 |
| KCNS3 | --HTSSLTSIPICWWWATISMTTVGYGDTH>P<VTLAGKLIASTCIICGILVVALPITIIFNK | 408 |
| KCNV1 | --PDTTFTSVPCAWWWATTSMTTVGYGDIR>P<DTTTGKIVAFMCILSGILVLALPIAIINDR | 430 |
| KCNV2 | --PSTNFTTIPHSWWWAAVSISTVGYGDMY>P<ETHLGRFFAFLCIAFGIILNGMPISILYNK | 495 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P320A | c.958C>G | Inherited Arrhythmia | LQTS | rs199472753 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997 96(9):2778-81. 9386136 | ||
| Inherited Arrhythmia | LQTS | Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1. J Mol Cell Cardiol. 2010 48(1):230-7. 19540844 | |||
| p.P320H | c.959C>A | Inherited Arrhythmia | LQTS | rs199473470 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1. J Mol Cell Cardiol. 2010 48(1):230-7. 19540844 | |||
| 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 | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| 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.P320S | c.958C>T | Inherited Arrhythmia | LQTS,JLNS | rs199472753 | 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 | ||
| Inherited Arrhythmia | JLNS | Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet. 2013 6(2):193-200. doi: 10.1161/CIRCGENETICS.112.964684 23392653 | |||