No paralogue variants have been mapped to residue 589 for KCNQ1.
| KCNQ1 | V-----------------SEKSKDRGSNTI>G<ARLNRVEDKVTQLDQRLALITDMLHQLLSL | 619 |
| KCNQ2 | G-----------------PAEAELPEDPSM>M<GRLGKVEKQVLSMEKKLDFLVNIYMQRMGI | 650 |
| KCNQ3 | AFTFPSQQSPRNEPYVARPSTSEI-EDQSM>M<GKFVKVERQVQDMGKKLDFLVDMHMQHMER | 649 |
| KCNQ4 | G-----------------PSDAEVVDEISM>M<GRVVKVEKQVQSIEHKLDLLLGFYSRCLRS | 646 |
| KCNQ5 | I-----------------TAEHETTDDLSM>L<GRVVKVEKQVQSIESKLDCLLDIYQQVLRK | 633 |
| KCNA1 | ------------------------------>-<------------------------------ | |
| KCNA10 | ------------------------------>-<------------------------------ | |
| KCNA2 | ------------------------------>-<------------------------------ | |
| KCNA3 | ------------------------------>-<------------------------------ | |
| KCNA4 | ------------------------------>-<------------------------------ | |
| KCNA5 | ------------------------------>-<------------------------------ | |
| KCNA6 | ------------------------------>-<------------------------------ | |
| KCNA7 | ------------------------------>-<------------------------------ | |
| KCNB1 | ------------------------------>-<------------------------------ | |
| KCNB2 | ------------------------------>-<------------------------------ | |
| KCNC1 | ------------------------------>-<------------------------------ | |
| KCNC2 | ------------------------------>-<------------------------------ | |
| KCNC3 | ------------------------------>-<------------------------------ | |
| KCNC4 | ------------------------------>-<------------------------------ | |
| KCND1 | ------------------------------>-<------------------------------ | |
| KCND2 | ------------------------------>-<------------------------------ | |
| KCND3 | ------------------------------>-<------------------------------ | |
| KCNF1 | ------------------------------>-<------------------------------ | |
| KCNG1 | ------------------------------>-<------------------------------ | |
| KCNG2 | ------------------------------>-<------------------------------ | |
| KCNG3 | ------------------------------>-<------------------------------ | |
| KCNG4 | ------------------------------>-<------------------------------ | |
| KCNS1 | ------------------------------>-<------------------------------ | |
| KCNS2 | ------------------------------>-<------------------------------ | |
| KCNS3 | ------------------------------>-<------------------------------ | |
| KCNV1 | ------------------------------>-<------------------------------ | |
| KCNV2 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G589D | c.1766G>A | Inherited Arrhythmia | LQTS | rs120074190 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. J Am Coll Cardiol. 1999 34(3):823-9. 10483966 | ||
| Inherited Arrhythmia | LQTS | A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. J Am Coll Cardiol. 2001 37(2):562-8. 11216980 | |||
| Inherited Arrhythmia | LQTS | Death in bathtub revisited with molecular genetics: a victim with suicidal traits and a LQTS gene mutation. Forensic Sci Int. 2002 130(2-3):122-4. 12477631 | |||
| Inherited Arrhythmia | LQTS | Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water. Int J Legal Med. 2003 117(2):115-7. 12690509 | |||
| Inherited Arrhythmia | LQTS | A subset of dorsal neurons modulates circadian behavior and light responses in Drosophila. Neuron. 2007 53(5):689-701. 17329209 | |||
| Inherited Arrhythmia | LQTS | High prevalence of four long QT syndrome founder mutations in the Finnish population. Ann Med. 2009 41(3):234-40. 19160088 | |||
| 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 | |||
| Other Cardiac Phenotype | A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome. Heart. 2010 96(16):1281-6. 20659946 | ||||
| Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | |||
| Inherited Arrhythmia | LQTS | Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes. Heart Rhythm. 2007 4(5):603-7. 17467628 | |||
| Inherited Arrhythmia | LQTS | Structural insight into KCNQ (Kv7) channel assembly and channelopathy. Neuron. 2007 53(5):663-75. 17329207 | |||
| Inherited Arrhythmia | LQTS | Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science. 2002 295(5554):496-9. 11799244 | |||
| Inherited Arrhythmia | LQTS | Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1. Circ Res. 2012 110(2):211-9. 22095730 | |||
| Inherited Arrhythmia | LQTS | LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms. Cardiovasc Res. 2014 104(3):501-11. doi: 10.1093/cvr/cvu231. 25344363 | |||
| p.G589S | c.1765G>A | Putative Benign | SIFT: Polyphen: | ||