No paralogue variants have been mapped to residue 393 for KCNQ1.
| KCNQ1 | ---------------------------STW>K<I-YIRK-A--PRSH---------------- | 403 |
| KCNQ2 | ---------------------------STW>Q<Y-YERT-VTVPMYSS--QT-QTY------- | 379 |
| KCNQ3 | ---------------------------ATW>R<F-YESV-VSFPFFR---------------- | 412 |
| KCNQ4 | ---------------------------ATW>Y<Y-YDSI-L--PSFRELALL-FEH------- | 385 |
| KCNQ5 | ---------------------------ATW>K<----------PHLK---------------- | 398 |
| KCNA1 | ------------------------------>-<-DL-SR--RS-----SS-T-MS-------- | 450 |
| KCNA10 | ------------------------------>-<--L--N--SV-----GS-R-MG-------- | 492 |
| KCNA2 | ------------------------------>-<DLK-KS--RS-----AS-T-IS-------- | 454 |
| KCNA3 | ------------------------------>-<ELR-KA--RS-----NS-T-LS-------- | 525 |
| KCNA4 | ------------------------------>-<KFR-SS--TS-----SS-L-GD-------- | 607 |
| KCNA5 | -------KVSG-SRGSFCKAGG------T->-<LEN--A--DS----ARR-G-SC-------- | 581 |
| KCNA6 | --------------------QP------A->-<PDL--R--AT-----DN-G-LG-------- | 497 |
| KCNA7 | ----------------------------G->-<PLE--G--KA-----NG-G-LV-------- | 433 |
| KCNB1 | ------------------------------>-<--M-K--DAF-----AR-S-IE-----MMD | 462 |
| KCNB2 | ------------------------------>-<--L-K--DAF-----AR-S-ME-----LID | 466 |
| KCNC1 | ---------------------------VNS>P<HHS-TQ--SD-----TC-P-LA-------- | 491 |
| KCNC2 | ---------------------------LNM>A<CNS-TQ--SD-----TC-L-GK-------- | 528 |
| KCNC3 | VTVAGAYPAGPHTHPGLLRGGAGGLGIMGL>P<PLP-AP--GE-----PC-P-LA-------- | 649 |
| KCNC4 | ---------------------------ETS>P<RDS-TC--SD-----TS-PPAR-------- | 528 |
| KCND1 | ------------------------------>-<--F-LQYKQN-----GG-L-ED-----SG- | 459 |
| KCND2 | ------------------------------>-<--Y-MQSKRN-----GL-L-SN-----QLQ | 458 |
| KCND3 | ------------------------------>-<--Y-LHSKRN-----GL-L-NE-----ALE | 455 |
| KCNF1 | ------------------------------>-<--G-KT-GGS-----RS-D-LD-----NLP | 453 |
| KCNG1 | ------------------------------>-<--S-Q----D-----SD-I-LFGSAS--SD | 508 |
| KCNG2 | ------------------------------>-<--T-E----D-----SS-Q-GPDSAGLADD | 455 |
| KCNG3 | ------------------------------>-<--F-L------------------------- | 435 |
| KCNG4 | ------------------------------>-<--H-V----A-----SE-H-EL-----MND | 503 |
| KCNS1 | ------------------------------>-<-GV-S--EAS-----LE-T-SR-----ETS | 504 |
| KCNS2 | ------------------------------>-<--L-R--DYY-----AH-K-VK-----SLM | 456 |
| KCNS3 | ------------------------------>-<--I-R--DIY-----AQ-R-MH-----TFI | 452 |
| KCNV1 | ------------------------------>-<--L-R--DVY-----AR-S-IM-----EML | 480 |
| KCNV2 | ------------------------------>-<-KI-A--ECL-----LG-S-NP-----QLT | 540 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K393M | c.1178A>T | Inherited Arrhythmia | LQTS | rs199472775 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| Inherited Arrhythmia | LQTS | Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks). Proc Natl Acad Sci U S A. 2013 110(47):18922-7. doi: 10.1073/pnas.1315649110. 24190995 | |||
| p.K393N | c.1179G>T | Conflict | rs12720457 | SIFT: tolerated Polyphen: benign | |
| Reports | Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
| 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 | |||
| Other Cardiac Phenotype | Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064 | ||||
| Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| Inherited Arrhythmia | LQTS | Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695 | |||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | |||
| Putative Benign | 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 | ||||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| Inherited Arrhythmia | LQTS | Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999 | |||
| Inherited Arrhythmia | LQTS | Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. Circ Res. 2006 98(8):1055-63. 16556865 | |||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||
| Other Disease Phenotype | KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort. Mol Cell Endocrinol. 2016 427:86-91. doi: 10.1016/j.mce.2016.03.007. 26970180 | ||||