| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNA1 | V404I | Episodic ataxia / myokymia | Medium | 9 | 9600245, 21307345, 25659636, 26944241 |
| KCNQ2 | A309V | Epileptic encephalopathy, early-onset | High | 9 | 23692823 |
| KCNC3 | V535M | Spinocerebellar ataxia 13 | Medium | 9 | 25756792, 25756792 |
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 | GYGDKVPQTWVGKTIASCFSVFAISFFALP>A<GILGSGFALKVQQKQRQKHFNRQIPA--AA | 372 |
| KCNQ2 | GYGDKYPQTWNGRLLAATFTLIGVSFFALP>A<GILGSGFALKVQEQHRQKHFEKRRNP--AA | 337 |
| KCNQ3 | GYGDKTPKTWEGRLIAATFSLIGVSFFALP>A<GILGSGLALKVQEQHRQKHFEKRRKP--AA | 376 |
| KCNQ4 | GYGDKTPHTWLGRVLAAGFALLGISFFALP>A<GILGSGFALKVQEQHRQKHFEKRRMP--AA | 343 |
| KCNQ5 | GYGDKTPLTWLGRLLSAGFALLGISFFALP>A<GILGSGFALKVQEQHRQKHFEKRRNP--AA | 371 |
| KCNA1 | GYGDMYPVTIGGKIVGSLCAIAGVLTIALP>V<PVIVSNFNYFYHRETEGEEQAQLLH----- | 429 |
| KCNA10 | GYGDMCPTTPGGKIVGTLCAIAGVLTIALP>V<PVIVSNFNYFYHRETENEEKQNIPGEIERI | 483 |
| KCNA2 | GYGDMVPTTIGGKIVGSLCAIAGVLTIALP>V<PVIVSNFNYFYHRETEGEEQAQYLQ----- | 431 |
| KCNA3 | GYGDMHPVTIGGKIVGSLCAIAGVLTIALP>V<PVIVSNFNYFYHRETEGEEQSQYMH----- | 501 |
| KCNA4 | GYGDMKPITVGGKIVGSLCAIAGVLTIALP>V<PVIVSNFNYFYHRETENEEQTQLTQ----- | 581 |
| KCNA5 | GYGDMRPITVGGKIVGSLCAIAGVLTIALP>V<PVIVSNFNYFYHRETDHEEPAVLKEE--QG | 540 |
| KCNA6 | GYGDMYPMTVGGKIVGSLCAIAGVLTIALP>V<PVIVSNFNYFYHRETEQEEQGQYTHV---- | 480 |
| KCNA7 | GYGDMAPVTVGGKIVGSLCAIAGVLTISLP>V<PVIVSNFSYFYHRETEGEEAGMFSHV---- | 416 |
| KCNB1 | GYGDIYPKTLLGKIVGGLCCIAGVLVIALP>I<PIIVNNFSEFYKEQKRQEKAIKRREA--LE | 437 |
| KCNB2 | GYGDIYPKTLLGKIVGGLCCIAGVLVIALP>I<PIIVNNFSEFYKEQKRQEKAIKRREA--LE | 441 |
| KCNC1 | GYGDMYPQTWSGMLVGALCALAGVLTIAMP>V<PVIVNNFGMYYSLAMAKQKLPKKKKK--HI | 460 |
| KCNC2 | GYGDMYPQTWSGMLVGALCALAGVLTIAMP>V<PVIVNNFGMYYSLAMAKQKLPRKRKK--HI | 497 |
| KCNC3 | GYGDMYPKTWSGMLVGALCALAGVLTIAMP>V<PVIVNNFGMYYSLAMAKQKLPKKKNK--HI | 563 |
| KCNC4 | GYGDMYPKTWSGMLVGALCALAGVLTIAMP>V<PVIVNNFGMYYSLAMAKQKLPKKRKK--HV | 496 |
| KCND1 | GYGDMVPSTIAGKIFGSICSLSGVLVIALP>V<PVIVSNFSRIYHQNQRADKRRAQQKV--RL | 432 |
| KCND2 | GYGDMVPKTIAGKIFGSICSLSGVLVIALP>V<PVIVSNFSRIYHQNQRADKRRAQKKA--RL | 430 |
| KCND3 | GYGDMVPKTIAGKIFGSICSLSGVLVIALP>V<PVIVSNFSRIYHQNQRADKRRAQKKA--RL | 427 |
| KCNF1 | GYGDIYPKTTLGKLNAAISFLCGVIAIALP>I<HPIINNFVRYYNKQRVLETAAKHELE--LM | 430 |
| KCNG1 | GYGDMVPRSTPGQVVALSSILSGILLMAFP>V<TSIFHTFSRSYLELKQEQERVMFRRA--QF | 484 |
| KCNG2 | GYGDMVPRSLPGQVVALSSILSGILLMAFP>V<TSIFHTFSRSYSELKEQQQRAASPEP--AL | 429 |
| KCNG3 | GYGDMYPITVPGRILGGVCVVSGIVLLALP>I<TFIYHSFVQCYHELKFRSARYSR------- | 428 |
| KCNG4 | GYGDMVPRSVPGQMVALSSILSGILIMAFP>A<TSIFHTFSHSYLELKKEQEQLQARLR--HL | 478 |
| KCNS1 | GYGDVVPVTVAGKLAASGCILGGILVVALP>I<TIIFNKFSHFYRRQKALEAAVRNSNH--QE | 481 |
| KCNS2 | GYGDVVPGTTAGKLTASACILAGILVVVLP>I<TLIFNKFSHFYRRQKQLESAMRSCDF--GD | 434 |
| KCNS3 | GYGDTHPVTLAGKLIASTCIICGILVVALP>I<TIIFNKFSKYYQKQKDIDVDQCSEDA--PE | 430 |
| KCNV1 | GYGDIRPDTTTGKIVAFMCILSGILVLALP>I<AIINDRFSACYFTLKLKEAAVRQREA--LK | 452 |
| KCNV2 | GYGDMYPETHLGRFFAFLCIAFGIILNGMP>I<SILYNKFSDYYSKLKAYEYTTIRRER--GE | 517 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A344E | c.1031C>A | Inherited Arrhythmia | LQTS | rs199472763 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. J Am Coll Cardiol. 2004 44(1):117-25. 15234419 | ||
| 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.A344V | c.1031C>T | Inherited Arrhythmia | LQTS | rs199472763 | 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 | Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642 | |||
| 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 | New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Circulation. 1998 97(13):1264-9. 9570196 | |||
| 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 | |||
| p.Ala344Gly | c.1031C>G | Unknown | SIFT: Polyphen: | ||