| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNA2 | P405L | Epileptic encephalopathy | High | 9 | 25751627, 25751627 |
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 | IGYGDKVPQTWVGKTIASCFSVFAISFFAL>P<AGILGSGFALKVQQKQRQKHFNRQIPA--A | 371 |
| KCNQ2 | IGYGDKYPQTWNGRLLAATFTLIGVSFFAL>P<AGILGSGFALKVQEQHRQKHFEKRRNP--A | 336 |
| KCNQ3 | IGYGDKTPKTWEGRLIAATFSLIGVSFFAL>P<AGILGSGLALKVQEQHRQKHFEKRRKP--A | 375 |
| KCNQ4 | IGYGDKTPHTWLGRVLAAGFALLGISFFAL>P<AGILGSGFALKVQEQHRQKHFEKRRMP--A | 342 |
| KCNQ5 | IGYGDKTPLTWLGRLLSAGFALLGISFFAL>P<AGILGSGFALKVQEQHRQKHFEKRRNP--A | 370 |
| KCNA1 | VGYGDMYPVTIGGKIVGSLCAIAGVLTIAL>P<VPVIVSNFNYFYHRETEGEEQAQLLH---- | 429 |
| KCNA10 | VGYGDMCPTTPGGKIVGTLCAIAGVLTIAL>P<VPVIVSNFNYFYHRETENEEKQNIPGEIER | 482 |
| KCNA2 | VGYGDMVPTTIGGKIVGSLCAIAGVLTIAL>P<VPVIVSNFNYFYHRETEGEEQAQYLQ---- | 431 |
| KCNA3 | VGYGDMHPVTIGGKIVGSLCAIAGVLTIAL>P<VPVIVSNFNYFYHRETEGEEQSQYMH---- | 501 |
| KCNA4 | VGYGDMKPITVGGKIVGSLCAIAGVLTIAL>P<VPVIVSNFNYFYHRETENEEQTQLTQ---- | 581 |
| KCNA5 | VGYGDMRPITVGGKIVGSLCAIAGVLTIAL>P<VPVIVSNFNYFYHRETDHEEPAVLKEE--Q | 539 |
| KCNA6 | VGYGDMYPMTVGGKIVGSLCAIAGVLTIAL>P<VPVIVSNFNYFYHRETEQEEQGQYTHV--- | 480 |
| KCNA7 | VGYGDMAPVTVGGKIVGSLCAIAGVLTISL>P<VPVIVSNFSYFYHRETEGEEAGMFSHV--- | 416 |
| KCNB1 | VGYGDIYPKTLLGKIVGGLCCIAGVLVIAL>P<IPIIVNNFSEFYKEQKRQEKAIKRREA--L | 436 |
| KCNB2 | VGYGDIYPKTLLGKIVGGLCCIAGVLVIAL>P<IPIIVNNFSEFYKEQKRQEKAIKRREA--L | 440 |
| KCNC1 | LGYGDMYPQTWSGMLVGALCALAGVLTIAM>P<VPVIVNNFGMYYSLAMAKQKLPKKKKK--H | 459 |
| KCNC2 | LGYGDMYPQTWSGMLVGALCALAGVLTIAM>P<VPVIVNNFGMYYSLAMAKQKLPRKRKK--H | 496 |
| KCNC3 | LGYGDMYPKTWSGMLVGALCALAGVLTIAM>P<VPVIVNNFGMYYSLAMAKQKLPKKKNK--H | 562 |
| KCNC4 | LGYGDMYPKTWSGMLVGALCALAGVLTIAM>P<VPVIVNNFGMYYSLAMAKQKLPKKRKK--H | 495 |
| KCND1 | LGYGDMVPSTIAGKIFGSICSLSGVLVIAL>P<VPVIVSNFSRIYHQNQRADKRRAQQKV--R | 431 |
| KCND2 | LGYGDMVPKTIAGKIFGSICSLSGVLVIAL>P<VPVIVSNFSRIYHQNQRADKRRAQKKA--R | 429 |
| KCND3 | LGYGDMVPKTIAGKIFGSICSLSGVLVIAL>P<VPVIVSNFSRIYHQNQRADKRRAQKKA--R | 426 |
| KCNF1 | VGYGDIYPKTTLGKLNAAISFLCGVIAIAL>P<IHPIINNFVRYYNKQRVLETAAKHELE--L | 429 |
| KCNG1 | VGYGDMVPRSTPGQVVALSSILSGILLMAF>P<VTSIFHTFSRSYLELKQEQERVMFRRA--Q | 483 |
| KCNG2 | VGYGDMVPRSLPGQVVALSSILSGILLMAF>P<VTSIFHTFSRSYSELKEQQQRAASPEP--A | 428 |
| KCNG3 | VGYGDMYPITVPGRILGGVCVVSGIVLLAL>P<ITFIYHSFVQCYHELKFRSARYSR------ | 428 |
| KCNG4 | VGYGDMVPRSVPGQMVALSSILSGILIMAF>P<ATSIFHTFSHSYLELKKEQEQLQARLR--H | 477 |
| KCNS1 | VGYGDVVPVTVAGKLAASGCILGGILVVAL>P<ITIIFNKFSHFYRRQKALEAAVRNSNH--Q | 480 |
| KCNS2 | VGYGDVVPGTTAGKLTASACILAGILVVVL>P<ITLIFNKFSHFYRRQKQLESAMRSCDF--G | 433 |
| KCNS3 | VGYGDTHPVTLAGKLIASTCIICGILVVAL>P<ITIIFNKFSKYYQKQKDIDVDQCSEDA--P | 429 |
| KCNV1 | VGYGDIRPDTTTGKIVAFMCILSGILVLAL>P<IAIINDRFSACYFTLKLKEAAVRQREA--L | 451 |
| KCNV2 | VGYGDMYPETHLGRFFAFLCIAFGIILNGM>P<ISILYNKFSDYYSKLKAYEYTTIRRER--G | 516 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P343L | c.1028C>T | Inherited Arrhythmia | LQTS | rs199472761 | 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 | |||
| 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 | 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.P343R | c.1028C>G | Inherited Arrhythmia | LQTS | rs199472761 | 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 | ||
| p.P343S | c.1027C>T | Inherited Arrhythmia | LQTS | rs199472762 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642 | ||
| Inherited Arrhythmia | LQTS | Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome. Biochim Biophys Acta. 2004 1690(3):185-92. 15511625 | |||
| 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 | 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 | |||