No paralogue variants have been mapped to residue 397 for KCNQ1.
| KCNQ1 | ----------------------STWKI-YI>R<K-A--PRSH--------------------- | 403 |
| KCNQ2 | ----------------------STWQY-YE>R<T-VTVPMYSS--QT-QTY------------ | 379 |
| KCNQ3 | ----------------------ATWRF-YE>S<V-VSFPFFR--------------------- | 412 |
| KCNQ4 | ----------------------ATWYY-YD>S<I-L--PSFRELALL-FEH------------ | 385 |
| KCNQ5 | ----------------------ATWK---->-<-----PHLK--------------------- | 398 |
| KCNA1 | ---------------------------DL->S<R--RS-----SS-T-MS------------- | 450 |
| KCNA10 | ----------------------------L->-<N--SV-----GS-R-MG------------- | 492 |
| KCNA2 | --------------------------DLK->K<S--RS-----AS-T-IS------------- | 454 |
| KCNA3 | --------------------------ELR->K<A--RS-----NS-T-LS------------- | 525 |
| KCNA4 | --------------------------KFR->S<S--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---IV | 464 |
| KCNB2 | ----------------------------L->K<--DAF-----AR-S-ME-----LID---VA | 468 |
| KCNC1 | ----------------------VNSPHHS->T<Q--SD-----TC-P-LA------------- | 491 |
| KCNC2 | ----------------------LNMACNS->T<Q--SD-----TC-L-GK------------- | 528 |
| KCNC3 | AYPAGPHTHPGLLRGGAGGLGIMGLPPLP->A<P--GE-----PC-P-LA------------- | 649 |
| KCNC4 | ----------------------ETSPRDS->T<C--SD-----TS-PPAR------------- | 528 |
| KCND1 | ----------------------------F->L<QYKQN-----GG-L-ED-----SG--S-GE | 462 |
| KCND2 | ----------------------------Y->M<QSKRN-----GL-L-SN-----QLQ-SSED | 462 |
| KCND3 | ----------------------------Y->L<HSKRN-----GL-L-NE-----ALELTGTP | 460 |
| KCNF1 | ----------------------------G->K<T-GGS-----RS-D-LD-----NLP---PE | 455 |
| KCNG1 | ----------------------------S->Q<----D-----SD-I-LFGSAS--SD---TR | 510 |
| KCNG2 | ----------------------------T->E<----D-----SS-Q-GPDSAGLADD---SA | 457 |
| KCNG3 | ----------------------------F->L<------------------------------ | 435 |
| KCNG4 | ----------------------------H->V<----A-----SE-H-EL-----MND---VN | 505 |
| KCNS1 | ---------------------------GV->S<--EAS-----LE-T-SR-----ETS---QE | 506 |
| KCNS2 | ----------------------------L->R<--DYY-----AH-K-VK-----SLM---AS | 458 |
| KCNS3 | ----------------------------I->R<--DIY-----AQ-R-MH-----TFI---TS | 454 |
| KCNV1 | ----------------------------L->R<--DVY-----AR-S-IM-----EML----- | 480 |
| KCNV2 | ---------------------------KI->A<--ECL-----LG-S-NP-----QLT---PR | 542 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R397W | c.1189C>T | Inherited Arrhythmia | LQTS | rs199472776 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||
| 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 | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| 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 syndrome-associated mutations in intrauterine fetal death. JAMA. 2013 309(14):1473-82. doi: 10.1001/jama.2013.3219. 23571586 | |||
| 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 | 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 | |||
| Inherited Arrhythmia | LQTS | Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet. 2015 47(7):717-26. doi: 10.1038/ng.3304. 25985138 | |||
| p.R397Q | c.1190G>A | Cardiomyopathy | rs374090960 | SIFT: tolerated Polyphen: benign | |
| Reports | Cardiomyopathy | ARVD/C | Arrhythmogenic cardiomyopathy in a patient with a rare loss-of-function KCNQ1 mutation. J Am Heart Assoc. 2015 4(1):e001526. doi: 10.1161/JAHA.114.001526. 25616976 | ||
| Cardiomyopathy | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | ||||
| p.R397G | c.1189C>G | Putative Benign | SIFT: Polyphen: | ||