No paralogue variants have been mapped to residue 338 for KCNQ1.
| KCNQ1 | VTVTTIGYGDKVPQTWVGKTIASCFSVFAI>S<FFALPAGILGSGFALKVQQKQRQKHFNRQI | 368 |
| KCNQ2 | ITLTTIGYGDKYPQTWNGRLLAATFTLIGV>S<FFALPAGILGSGFALKVQEQHRQKHFEKRR | 333 |
| KCNQ3 | ITLATIGYGDKTPKTWEGRLIAATFSLIGV>S<FFALPAGILGSGLALKVQEQHRQKHFEKRR | 372 |
| KCNQ4 | ITLTTIGYGDKTPHTWLGRVLAAGFALLGI>S<FFALPAGILGSGFALKVQEQHRQKHFEKRR | 339 |
| KCNQ5 | ITLTTIGYGDKTPLTWLGRLLSAGFALLGI>S<FFALPAGILGSGFALKVQEQHRQKHFEKRR | 367 |
| KCNA1 | VSMTTVGYGDMYPVTIGGKIVGSLCAIAGV>L<TIALPVPVIVSNFNYFYHRETEGEEQAQLL | 428 |
| KCNA10 | VTMTTVGYGDMCPTTPGGKIVGTLCAIAGV>L<TIALPVPVIVSNFNYFYHRETENEEKQNIP | 477 |
| KCNA2 | VSMTTVGYGDMVPTTIGGKIVGSLCAIAGV>L<TIALPVPVIVSNFNYFYHRETEGEEQAQYL | 430 |
| KCNA3 | VTMTTVGYGDMHPVTIGGKIVGSLCAIAGV>L<TIALPVPVIVSNFNYFYHRETEGEEQSQYM | 500 |
| KCNA4 | VTMTTVGYGDMKPITVGGKIVGSLCAIAGV>L<TIALPVPVIVSNFNYFYHRETENEEQTQLT | 580 |
| KCNA5 | VTMTTVGYGDMRPITVGGKIVGSLCAIAGV>L<TIALPVPVIVSNFNYFYHRETDHEEPAVLK | 536 |
| KCNA6 | VTMTTVGYGDMYPMTVGGKIVGSLCAIAGV>L<TIALPVPVIVSNFNYFYHRETEQEEQGQYT | 478 |
| KCNA7 | VTMTTVGYGDMAPVTVGGKIVGSLCAIAGV>L<TISLPVPVIVSNFSYFYHRETEGEEAGMFS | 414 |
| KCNB1 | ITMTTVGYGDIYPKTLLGKIVGGLCCIAGV>L<VIALPIPIIVNNFSEFYKEQKRQEKAIKRR | 433 |
| KCNB2 | ITMTTVGYGDIYPKTLLGKIVGGLCCIAGV>L<VIALPIPIIVNNFSEFYKEQKRQEKAIKRR | 437 |
| KCNC1 | VTMTTLGYGDMYPQTWSGMLVGALCALAGV>L<TIAMPVPVIVNNFGMYYSLAMAKQKLPKKK | 456 |
| KCNC2 | VTMTTLGYGDMYPQTWSGMLVGALCALAGV>L<TIAMPVPVIVNNFGMYYSLAMAKQKLPRKR | 493 |
| KCNC3 | VTMTTLGYGDMYPKTWSGMLVGALCALAGV>L<TIAMPVPVIVNNFGMYYSLAMAKQKLPKKK | 559 |
| KCNC4 | VTMTTLGYGDMYPKTWSGMLVGALCALAGV>L<TIAMPVPVIVNNFGMYYSLAMAKQKLPKKR | 492 |
| KCND1 | VTMTTLGYGDMVPSTIAGKIFGSICSLSGV>L<VIALPVPVIVSNFSRIYHQNQRADKRRAQQ | 428 |
| KCND2 | VTMTTLGYGDMVPKTIAGKIFGSICSLSGV>L<VIALPVPVIVSNFSRIYHQNQRADKRRAQK | 426 |
| KCND3 | VTMTTLGYGDMVPKTIAGKIFGSICSLSGV>L<VIALPVPVIVSNFSRIYHQNQRADKRRAQK | 423 |
| KCNF1 | ITMTTVGYGDIYPKTTLGKLNAAISFLCGV>I<AIALPIHPIINNFVRYYNKQRVLETAAKHE | 426 |
| KCNG1 | ITMTTVGYGDMVPRSTPGQVVALSSILSGI>L<LMAFPVTSIFHTFSRSYLELKQEQERVMFR | 480 |
| KCNG2 | ISMTTVGYGDMVPRSLPGQVVALSSILSGI>L<LMAFPVTSIFHTFSRSYSELKEQQQRAASP | 425 |
| KCNG3 | ISMTTVGYGDMYPITVPGRILGGVCVVSGI>V<LLALPITFIYHSFVQCYHELKFRSARYSR- | 428 |
| KCNG4 | ISMTTVGYGDMVPRSVPGQMVALSSILSGI>L<IMAFPATSIFHTFSHSYLELKKEQEQLQAR | 474 |
| KCNS1 | VSMTTVGYGDVVPVTVAGKLAASGCILGGI>L<VVALPITIIFNKFSHFYRRQKALEAAVRNS | 477 |
| KCNS2 | VSMTTVGYGDVVPGTTAGKLTASACILAGI>L<VVVLPITLIFNKFSHFYRRQKQLESAMRSC | 430 |
| KCNS3 | ISMTTVGYGDTHPVTLAGKLIASTCIICGI>L<VVALPITIIFNKFSKYYQKQKDIDVDQCSE | 426 |
| KCNV1 | TSMTTVGYGDIRPDTTTGKIVAFMCILSGI>L<VLALPIAIINDRFSACYFTLKLKEAAVRQR | 448 |
| KCNV2 | VSISTVGYGDMYPETHLGRFFAFLCIAFGI>I<LNGMPISILYNKFSDYYSKLKAYEYTTIRR | 513 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S338F | c.1013C>T | Inherited Arrhythmia | LQTS | rs199472758 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | ||
| 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.S338C | c.1013C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||