No paralogue variants have been mapped to residue 818 for KCNH2.
| KCNH2 | ILGKNDIFGEPLNLYAR------P----GK>S<NGDVRALTYCDLHKIHRDDLLEVLDMYPEF | 848 |
| KCNH1 | ILGKGDVFGDVFWKEAT------L----AQ>S<CANVRALTYCDLHVIKRDALQKVLEFYTAF | 687 |
| KCNH3 | ILGKGDLIGCELPRREQ------V----VK>A<NADVKGLTYCVLQCLQLAGLHDSLALYPEF | 688 |
| KCNH4 | ILGKGDLIGADIPEPGQEPGLGADPNFVLK>T<SADVKALTYCGLQQLSSRGLAEVLRLYPEY | 672 |
| KCNH5 | ILGKGDVFGDIFWKETT------L----AH>A<CANVRALTYCDLHIIKREALLKVLDFYTAF | 656 |
| KCNH6 | ILGKNDIFGEPVSLHAQ------P----GK>S<SADVRALTYCDLHKIQRADLLEVLDMYPAF | 700 |
| KCNH7 | ILGKNDIFGEMVHLYAK------P----GK>S<NADVRALTYCDLHKIQREDLLEVLDMYPEF | 851 |
| KCNH8 | ILGKGDLIGANLSIKDQ------V----IK>T<NADVKALTYCDLQCIILKGLFEVLDLYPEY | 657 |
| CNGA1 | VLSDGSYFGEISILNIKGSKA--G----NR>R<TANIKSIGYSDLFCLSKDDLMEALTEYPDA | 591 |
| CNGA2 | LLSAGSCFGEISILNIKGSKM--G----NR>R<TANIRSLGYSDLFCLSKDDLMEAVTEYPDA | 566 |
| CNGA3 | VLSDGSYFGEISILNIKGSKS--G----NR>R<TANIRSIGYSDLFCLSKDDLMEALTEYPEA | 594 |
| CNGA4 | VLGAGLYFGEISIINIKGNMS--G----NR>R<TANIKSLGYSDLFCLSKEDLREVLSEYPQA | 460 |
| CNGB1 | TLKAGSVFGEISLLAVGG-----G----NR>R<TANVVAHGFTNLFILDKKDLNEILVHYPES | 1072 |
| CNGB3 | TLKAGSVFGEISLLAAGG-----G----NR>R<TANVVAHGFANLLTLDKKTLQEILVHYPDS | 634 |
| HCN1 | KLTDGSYFGEICLLTKG------------R>R<TASVRADTYCRLYSLSVDNFNEVLEEYPMM | 579 |
| HCN2 | KLSDGSYFGEICLLTRG------------R>R<TASVRADTYCRLYSLSVDNFNEVLEEYPMM | 648 |
| HCN3 | RLTDGSYFGEICLLTRG------------R>R<TASVRADTYCRLYSLSVDHFNAVLEEFPMM | 532 |
| HCN4 | KLADGSYFGEICLLTRG------------R>R<TASVRADTYCRLYSLSVDNFNEVLEEYPMM | 699 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S818L | c.2453C>T | Inherited Arrhythmia | LQTS | rs121912510 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. Circulation. 1999 99(11):1464-70. 10086971 | ||
| Inherited Arrhythmia | LQTS | Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties. FEBS Lett. 2000 481(2):197-203. 10996323 | |||
| Inherited Arrhythmia | LQTS | Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472 | |||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]. Zhonghua Nei Ke Za Zhi. 2006 45(6):463-6. 16831322 | |||
| Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| p.S818P | c.2452T>C | Inherited Arrhythmia | LQTS | rs199473537 | 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 | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||