No paralogue variants have been mapped to residue 539 for KCNQ1.
| KCNQ1 | RMQ----------YFVAKKKFQQARKPYDV>R<DVIEQYSQGHLNLMVRIKELQRRLDQSIGK | 569 |
| KCNQ2 | VMR----------FLVSKRKFKESLRPYDV>M<DVIEQYSAGHLDMLSRIKSLQSRVDQIVGR | 595 |
| KCNQ3 | ILQ----------FRLYKKKFKETLRPYDV>K<DVIEQYSAGHLDMLSRIKYLQTRIDMIFTP | 574 |
| KCNQ4 | ILK----------FLVAKRKFKETLRPYDV>K<DVIEQYSAGHLDMLGRIKSLQTRVDQIVGR | 589 |
| KCNQ5 | IMK----------FHVAKRKFKETLRPYDV>K<DVIEQYSAGHLDMLCRIKSLQTRVDQILGK | 577 |
| KCNA1 | KLL----------TD--------------->-<------------------------------ | 494 |
| KCNA10 | TEK----------SR--------------->-<------------------------------ | 510 |
| KCNA2 | KML----------TD--------------->-<------------------------------ | 498 |
| KCNA3 | KIF----------TD--------------->-<------------------------------ | 574 |
| KCNA4 | AVE----------TD--------------->-<------------------------------ | 652 |
| KCNA5 | RSLYALCLDTSRETD--------------->-<------------------------------ | 612 |
| KCNA6 | RML----------TE--------------->-<------------------------------ | 528 |
| KCNA7 | HLV----------TE--------------->-<------------------------------ | 455 |
| KCNB1 | NFM----------EG-------DPSPLLPV>L<GMYHDPLRNRGSAAAAVAGLECA------- | 711 |
| KCNB2 | NFK----------ENRGSAPQTPPSTARPL>P<VTTADFSLTTPQHISTILLEETP------- | 761 |
| KCNC1 | CFL----------LSTGEYACPPGGGMRK->-<--------DLCKESP---VIAKY------- | 576 |
| KCNC2 | CFL----------LTTGDYTCASDGGIRKG>-<---YEKSRSLNNIAGLAGNALRL------- | 614 |
| KCNC3 | CFL----------LT--DYAPSPDGSIRKA>T<GAPPLPPQDWRKPGPPS-FLPDL------- | 747 |
| KCNC4 | CFL----------LSTGDYACA-DGSVRKG>-<---TFVLRDLPLQHSP---EAAC------- | 624 |
| KCND1 | MQE----------LDMLA--GLRRSHAPQS>R<SSLNAKPHDSLDLNCDSRDFVAA------- | 597 |
| KCND2 | IQE----------LSTIQIRCVERTPLSNS>R<SSLNAKMEECVKLNCEQPYVTTA------- | 596 |
| KCND3 | MQE----------LSTIHIQGSEQPSLTTS>R<SSLNLKADDGLRPNCKTSQITTA------- | 613 |
| KCNF1 | ------------------------------>-<------------------------------ | |
| KCNG1 | ------------------------------>-<------------------------------ | |
| KCNG2 | ------------------------------>-<------------------------------ | |
| KCNG3 | ------------------------------>-<------------------------------ | |
| KCNG4 | ------------------------------>-<------------------------------ | |
| KCNS1 | ------------------------------>-<------------------------------ | |
| KCNS2 | ------------------------------>-<------------------------------ | |
| KCNS3 | ------------------------------>-<------------------------------ | |
| KCNV1 | ------------------------------>-<------------------------------ | |
| KCNV2 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R539Q | c.1616G>A | Inherited Arrhythmia | LQTS | rs199472794 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||
| p.R539W | c.1615C>T | Inherited Arrhythmia | LQTS | rs199472795 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||
| Inherited Arrhythmia | LQTS | Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125 | |||
| 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 | Kv7.1 (KCNQ1) properties and channelopathies. J Physiol. 2008 586(7):1785-9. 18174212 | |||
| 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 | Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. Cardiovasc Res. 2000 45(4):971-80. 10728423 | |||
| Inherited Arrhythmia | LQTS | Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interaction underlies the long QT syndrome. Circ Res. 2005 96(7):730-9. 15746441 | |||
| 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 | A long QT mutation substitutes cholesterol for phosphatidylinositol-4,5-bisphosphate in KCNQ1 channel regulation. PLoS One. 2014 9(3):e93255. doi: 10.1371/journal.pone.0093255. eC 24681627 | |||