No paralogue variants have been mapped to residue 28 for KCNH2.
| KCNH2 | G-HVAPQNTFLDTI---IR----KFEGQSR>K<-----------FIIANA-RVEN-CAVI-YC | 44 |
| KCNH1 | G-LVAPQNTFLENI---VR----RS--NDT>N<-----------FVLGNA-QIVD-WPIV-YS | 45 |
| KCNH3 | G-LLAPQNTFLDTI---AT----RFDGTHS>N<-----------FVLGNA-QVAGLFPVV-YC | 45 |
| KCNH4 | G-LLAPQNTFLDTI---AT----RFDGTHS>N<-----------FLLANA-QGTRGFPIV-YC | 45 |
| KCNH5 | G-LVAPQNTFLENI---VR----RS--SES>S<-----------FLLGNA-QIVD-WPVV-YS | 43 |
| KCNH6 | G-HVAPQNTYLDTI---IR----KFEGQSR>K<-----------FLIANA-QMEN-CAII-YC | 44 |
| KCNH7 | G-HVAPQNTFLGTI---IR----KFEGQNK>K<-----------FIIANA-RVQN-CAII-YC | 44 |
| KCNH8 | G-LLAPQNTFLDTI---AT----RFDGTHS>N<-----------FILANA-QVAKGFPIV-YC | 45 |
| CNGA1 | NNIINTQQSFVTMPNVIVP----DIEKE-->-<---------I----------------R-RM | 34 |
| CNGA2 | ---TNGVK--------SSP----AN----->-<-----------------------------N | 15 |
| CNGA3 | ---INTQY--------SHP----SRTH--->-<---------L----------------KVKT | 20 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | -ADPSPQETKEAAL---TSTISLRAQGAEI>S<EMNSPSRRVLTWLMKGVEKVIP-QPVH-SI | 121 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------GKPNS->-<------------------------------ | 9 |
| HCN2 | -----------RG-----G----GGRPGE->-<------------------------------ | 12 |
| HCN3 | ------------------------QRPAA->-<------------------------------ | 9 |
| HCN4 | KRLYSLPQQVGAK-----A----WIMDEE->-<------------------------------ | 29 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K28E | c.82A>G | Inherited Arrhythmia | LQTS | rs199472829 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome. Circulation. 2005 111(8):961-8. 15699249 | ||
| Inherited Arrhythmia | LQTS | Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death. Heart Rhythm. 2004 1(5):610-5. 15851228 | |||
| Inherited Arrhythmia | LQTS | Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-รก-go-go-related gene potassium channels. J Biol Chem. 2011 286(25):22160-9. 21536673 | |||
| Inherited Arrhythmia | LQTS | Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel. PLoS One. 2012 7(3):e32654. 22396785 | |||
| 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 | |||
| 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 | |||