No paralogue variants have been mapped to residue 342 for KCNQ1.
| KCNQ1 | TIGYGDKVPQTWVGKTIASCFSVFAISFFA>L<PAGILGSGFALKVQQKQRQKHFNRQIPA-- | 370 |
| KCNQ2 | TIGYGDKYPQTWNGRLLAATFTLIGVSFFA>L<PAGILGSGFALKVQEQHRQKHFEKRRNP-- | 335 |
| KCNQ3 | TIGYGDKTPKTWEGRLIAATFSLIGVSFFA>L<PAGILGSGLALKVQEQHRQKHFEKRRKP-- | 374 |
| KCNQ4 | TIGYGDKTPHTWLGRVLAAGFALLGISFFA>L<PAGILGSGFALKVQEQHRQKHFEKRRMP-- | 341 |
| KCNQ5 | TIGYGDKTPLTWLGRLLSAGFALLGISFFA>L<PAGILGSGFALKVQEQHRQKHFEKRRNP-- | 369 |
| KCNA1 | TVGYGDMYPVTIGGKIVGSLCAIAGVLTIA>L<PVPVIVSNFNYFYHRETEGEEQAQLLH--- | 429 |
| KCNA10 | TVGYGDMCPTTPGGKIVGTLCAIAGVLTIA>L<PVPVIVSNFNYFYHRETENEEKQNIPGEIE | 481 |
| KCNA2 | TVGYGDMVPTTIGGKIVGSLCAIAGVLTIA>L<PVPVIVSNFNYFYHRETEGEEQAQYLQ--- | 431 |
| KCNA3 | TVGYGDMHPVTIGGKIVGSLCAIAGVLTIA>L<PVPVIVSNFNYFYHRETEGEEQSQYMH--- | 501 |
| KCNA4 | TVGYGDMKPITVGGKIVGSLCAIAGVLTIA>L<PVPVIVSNFNYFYHRETENEEQTQLTQ--- | 581 |
| KCNA5 | TVGYGDMRPITVGGKIVGSLCAIAGVLTIA>L<PVPVIVSNFNYFYHRETDHEEPAVLKEE-- | 538 |
| KCNA6 | TVGYGDMYPMTVGGKIVGSLCAIAGVLTIA>L<PVPVIVSNFNYFYHRETEQEEQGQYTHV-- | 480 |
| KCNA7 | TVGYGDMAPVTVGGKIVGSLCAIAGVLTIS>L<PVPVIVSNFSYFYHRETEGEEAGMFSHV-- | 416 |
| KCNB1 | TVGYGDIYPKTLLGKIVGGLCCIAGVLVIA>L<PIPIIVNNFSEFYKEQKRQEKAIKRREA-- | 435 |
| KCNB2 | TVGYGDIYPKTLLGKIVGGLCCIAGVLVIA>L<PIPIIVNNFSEFYKEQKRQEKAIKRREA-- | 439 |
| KCNC1 | TLGYGDMYPQTWSGMLVGALCALAGVLTIA>M<PVPVIVNNFGMYYSLAMAKQKLPKKKKK-- | 458 |
| KCNC2 | TLGYGDMYPQTWSGMLVGALCALAGVLTIA>M<PVPVIVNNFGMYYSLAMAKQKLPRKRKK-- | 495 |
| KCNC3 | TLGYGDMYPKTWSGMLVGALCALAGVLTIA>M<PVPVIVNNFGMYYSLAMAKQKLPKKKNK-- | 561 |
| KCNC4 | TLGYGDMYPKTWSGMLVGALCALAGVLTIA>M<PVPVIVNNFGMYYSLAMAKQKLPKKRKK-- | 494 |
| KCND1 | TLGYGDMVPSTIAGKIFGSICSLSGVLVIA>L<PVPVIVSNFSRIYHQNQRADKRRAQQKV-- | 430 |
| KCND2 | TLGYGDMVPKTIAGKIFGSICSLSGVLVIA>L<PVPVIVSNFSRIYHQNQRADKRRAQKKA-- | 428 |
| KCND3 | TLGYGDMVPKTIAGKIFGSICSLSGVLVIA>L<PVPVIVSNFSRIYHQNQRADKRRAQKKA-- | 425 |
| KCNF1 | TVGYGDIYPKTTLGKLNAAISFLCGVIAIA>L<PIHPIINNFVRYYNKQRVLETAAKHELE-- | 428 |
| KCNG1 | TVGYGDMVPRSTPGQVVALSSILSGILLMA>F<PVTSIFHTFSRSYLELKQEQERVMFRRA-- | 482 |
| KCNG2 | TVGYGDMVPRSLPGQVVALSSILSGILLMA>F<PVTSIFHTFSRSYSELKEQQQRAASPEP-- | 427 |
| KCNG3 | TVGYGDMYPITVPGRILGGVCVVSGIVLLA>L<PITFIYHSFVQCYHELKFRSARYSR----- | 428 |
| KCNG4 | TVGYGDMVPRSVPGQMVALSSILSGILIMA>F<PATSIFHTFSHSYLELKKEQEQLQARLR-- | 476 |
| KCNS1 | TVGYGDVVPVTVAGKLAASGCILGGILVVA>L<PITIIFNKFSHFYRRQKALEAAVRNSNH-- | 479 |
| KCNS2 | TVGYGDVVPGTTAGKLTASACILAGILVVV>L<PITLIFNKFSHFYRRQKQLESAMRSCDF-- | 432 |
| KCNS3 | TVGYGDTHPVTLAGKLIASTCIICGILVVA>L<PITIIFNKFSKYYQKQKDIDVDQCSEDA-- | 428 |
| KCNV1 | TVGYGDIRPDTTTGKIVAFMCILSGILVLA>L<PIAIINDRFSACYFTLKLKEAAVRQREA-- | 450 |
| KCNV2 | TVGYGDMYPETHLGRFFAFLCIAFGIILNG>M<PISILYNKFSDYYSKLKAYEYTTIRRER-- | 515 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L342F | c.1024C>T | Inherited Arrhythmia | LQTS | rs199472760 | 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 | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | |||
| 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 | Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J. 1997 16(17):5472-9. 9312006 | |||