| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNQ2 | F304S | Epileptic encephalopathy, early-onset | High | 9 | 23692823 |
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 | TVTTIGYGDKVPQTWVGKTIASCFSVFAIS>F<FALPAGILGSGFALKVQQKQRQKHFNRQIP | 369 |
| KCNQ2 | TLTTIGYGDKYPQTWNGRLLAATFTLIGVS>F<FALPAGILGSGFALKVQEQHRQKHFEKRRN | 334 |
| KCNQ3 | TLATIGYGDKTPKTWEGRLIAATFSLIGVS>F<FALPAGILGSGLALKVQEQHRQKHFEKRRK | 373 |
| KCNQ4 | TLTTIGYGDKTPHTWLGRVLAAGFALLGIS>F<FALPAGILGSGFALKVQEQHRQKHFEKRRM | 340 |
| KCNQ5 | TLTTIGYGDKTPLTWLGRLLSAGFALLGIS>F<FALPAGILGSGFALKVQEQHRQKHFEKRRN | 368 |
| KCNA1 | SMTTVGYGDMYPVTIGGKIVGSLCAIAGVL>T<IALPVPVIVSNFNYFYHRETEGEEQAQLLH | 429 |
| KCNA10 | TMTTVGYGDMCPTTPGGKIVGTLCAIAGVL>T<IALPVPVIVSNFNYFYHRETENEEKQNIPG | 478 |
| KCNA2 | SMTTVGYGDMVPTTIGGKIVGSLCAIAGVL>T<IALPVPVIVSNFNYFYHRETEGEEQAQYLQ | 431 |
| KCNA3 | TMTTVGYGDMHPVTIGGKIVGSLCAIAGVL>T<IALPVPVIVSNFNYFYHRETEGEEQSQYMH | 501 |
| KCNA4 | TMTTVGYGDMKPITVGGKIVGSLCAIAGVL>T<IALPVPVIVSNFNYFYHRETENEEQTQLTQ | 581 |
| KCNA5 | TMTTVGYGDMRPITVGGKIVGSLCAIAGVL>T<IALPVPVIVSNFNYFYHRETDHEEPAVLKE | 537 |
| KCNA6 | TMTTVGYGDMYPMTVGGKIVGSLCAIAGVL>T<IALPVPVIVSNFNYFYHRETEQEEQGQYTH | 479 |
| KCNA7 | TMTTVGYGDMAPVTVGGKIVGSLCAIAGVL>T<ISLPVPVIVSNFSYFYHRETEGEEAGMFSH | 415 |
| KCNB1 | TMTTVGYGDIYPKTLLGKIVGGLCCIAGVL>V<IALPIPIIVNNFSEFYKEQKRQEKAIKRRE | 434 |
| KCNB2 | TMTTVGYGDIYPKTLLGKIVGGLCCIAGVL>V<IALPIPIIVNNFSEFYKEQKRQEKAIKRRE | 438 |
| KCNC1 | TMTTLGYGDMYPQTWSGMLVGALCALAGVL>T<IAMPVPVIVNNFGMYYSLAMAKQKLPKKKK | 457 |
| KCNC2 | TMTTLGYGDMYPQTWSGMLVGALCALAGVL>T<IAMPVPVIVNNFGMYYSLAMAKQKLPRKRK | 494 |
| KCNC3 | TMTTLGYGDMYPKTWSGMLVGALCALAGVL>T<IAMPVPVIVNNFGMYYSLAMAKQKLPKKKN | 560 |
| KCNC4 | TMTTLGYGDMYPKTWSGMLVGALCALAGVL>T<IAMPVPVIVNNFGMYYSLAMAKQKLPKKRK | 493 |
| KCND1 | TMTTLGYGDMVPSTIAGKIFGSICSLSGVL>V<IALPVPVIVSNFSRIYHQNQRADKRRAQQK | 429 |
| KCND2 | TMTTLGYGDMVPKTIAGKIFGSICSLSGVL>V<IALPVPVIVSNFSRIYHQNQRADKRRAQKK | 427 |
| KCND3 | TMTTLGYGDMVPKTIAGKIFGSICSLSGVL>V<IALPVPVIVSNFSRIYHQNQRADKRRAQKK | 424 |
| KCNF1 | TMTTVGYGDIYPKTTLGKLNAAISFLCGVI>A<IALPIHPIINNFVRYYNKQRVLETAAKHEL | 427 |
| KCNG1 | TMTTVGYGDMVPRSTPGQVVALSSILSGIL>L<MAFPVTSIFHTFSRSYLELKQEQERVMFRR | 481 |
| KCNG2 | SMTTVGYGDMVPRSLPGQVVALSSILSGIL>L<MAFPVTSIFHTFSRSYSELKEQQQRAASPE | 426 |
| KCNG3 | SMTTVGYGDMYPITVPGRILGGVCVVSGIV>L<LALPITFIYHSFVQCYHELKFRSARYSR-- | 428 |
| KCNG4 | SMTTVGYGDMVPRSVPGQMVALSSILSGIL>I<MAFPATSIFHTFSHSYLELKKEQEQLQARL | 475 |
| KCNS1 | SMTTVGYGDVVPVTVAGKLAASGCILGGIL>V<VALPITIIFNKFSHFYRRQKALEAAVRNSN | 478 |
| KCNS2 | SMTTVGYGDVVPGTTAGKLTASACILAGIL>V<VVLPITLIFNKFSHFYRRQKQLESAMRSCD | 431 |
| KCNS3 | SMTTVGYGDTHPVTLAGKLIASTCIICGIL>V<VALPITIIFNKFSKYYQKQKDIDVDQCSED | 427 |
| KCNV1 | SMTTVGYGDIRPDTTTGKIVAFMCILSGIL>V<LALPIAIINDRFSACYFTLKLKEAAVRQRE | 449 |
| KCNV2 | SISTVGYGDMYPETHLGRFFAFLCIAFGII>L<NGMPISILYNKFSDYYSKLKAYEYTTIRRE | 514 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F339S | c.1016T>C | Inherited Arrhythmia | LQTS | rs199472759 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. Genet Med. 2007 9(1):23-33. 17224687 | ||
| 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 | Dysfunctional potassium channel subunit interaction as a novel mechanism of long QT syndrome. Heart Rhythm. 2013 10(5):728-37. doi: 10.1016/j.hrthm.2012.12.033. 23291057 | |||
| p.F339Y | c.1016T>A | Inherited Arrhythmia | LQTS | rs199472759 | 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.F339V | c.1015T>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Combined assessment of sex- and mutation-specific information for risk stratification in type 1 long QT syndrome. Heart Rhythm. 2012 9(6):892-8. doi: 10.1016/j.hrthm.2012.01.020. 22293141 | ||