No paralogue variants have been mapped to residue 546 for KCNQ1.
| KCNQ1 | ------YFVAKKKFQQARKPYDVRDVIEQY>S<QGHLNLMVRIKELQRRLDQSIGKPSLFIS- | 575 |
| KCNQ2 | ------FLVSKRKFKESLRPYDVMDVIEQY>S<AGHLDMLSRIKSLQSRVDQIVGRGPAITD- | 601 |
| KCNQ3 | ------FRLYKKKFKETLRPYDVKDVIEQY>S<AGHLDMLSRIKYLQTRIDMIFTPGPPSTP- | 580 |
| KCNQ4 | ------FLVAKRKFKETLRPYDVKDVIEQY>S<AGHLDMLGRIKSLQTRVDQIVGRGPGDRKA | 596 |
| KCNQ5 | ------FHVAKRKFKETLRPYDVKDVIEQY>S<AGHLDMLCRIKSLQTRVDQILGKGQITSD- | 583 |
| KCNA1 | ------TD---------------------->-<------------------------------ | 494 |
| KCNA10 | ------SR---------------------->-<------------------------------ | 510 |
| KCNA2 | ------TD---------------------->-<------------------------------ | 498 |
| KCNA3 | ------TD---------------------->-<------------------------------ | 574 |
| KCNA4 | ------TD---------------------->-<------------------------------ | 652 |
| KCNA5 | LDTSRETD---------------------->-<------------------------------ | 612 |
| KCNA6 | ------TE---------------------->-<------------------------------ | 528 |
| KCNA7 | ------TE---------------------->-<------------------------------ | 455 |
| KCNB1 | ------EG-------DPSPLLPVLGMYHDP>L<RNRGSAAAAVAGLECA-------------- | 711 |
| KCNB2 | ------ENRGSAPQTPPSTARPLPVTTADF>S<LTTPQHISTILLEETP-------------- | 761 |
| KCNC1 | ------LSTGEYACPPGGGMRK-------->-<-DLCKESP---VIAKY-------------- | 576 |
| KCNC2 | ------LTTGDYTCASDGGIRKG----YEK>S<RSLNNIAGLAGNALRL-------------- | 614 |
| KCNC3 | ------LT--DYAPSPDGSIRKATGAPPLP>P<QDWRKPGPPS-FLPDL-------------- | 747 |
| KCNC4 | ------LSTGDYACA-DGSVRKG----TFV>L<RDLPLQHSP---EAAC-------------- | 624 |
| KCND1 | ------LDMLA--GLRRSHAPQSRSSLNAK>P<HDSLDLNCDSRDFVAA-------------- | 597 |
| KCND2 | ------LSTIQIRCVERTPLSNSRSSLNAK>M<EECVKLNCEQPYVTTA-------------- | 596 |
| KCND3 | ------LSTIHIQGSEQPSLTTSRSSLNLK>A<DDGLRPNCKTSQITTA-------------- | 613 |
| KCNF1 | ------------------------------>-<------------------------------ | |
| KCNG1 | ------------------------------>-<------------------------------ | |
| KCNG2 | ------------------------------>-<------------------------------ | |
| KCNG3 | ------------------------------>-<------------------------------ | |
| KCNG4 | ------------------------------>-<------------------------------ | |
| KCNS1 | ------------------------------>-<------------------------------ | |
| KCNS2 | ------------------------------>-<------------------------------ | |
| KCNS3 | ------------------------------>-<------------------------------ | |
| KCNV1 | ------------------------------>-<------------------------------ | |
| KCNV2 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S546L | c.1637C>T | Inherited Arrhythmia | LQTS | rs199473480 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med. 2004 36 Suppl 1:53-63. 15176425 | ||
| 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 | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
| 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 | Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(4):417-26. 19808498 | |||
| 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 | |||
| Inherited Arrhythmia | LQTS | Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIPâ‚‚. J Cell Sci. 2014 127(Pt 18):3943-55. doi: 10.1242/jcs.147033. 25037568 | |||