No paralogue variants have been mapped to residue 56 for KCNH2.
| KCNH2 | FIIANA-RVEN-CAVI-YCNDGFCELCGYS>R<AEVMQRPCTCDFLHGPRTQRRAAAQ-IAQ- | 84 |
| KCNH1 | FVLGNA-QIVD-WPIV-YSNDGFCKLSGYH>R<AEVMQKSSTCSFMYGELTDKDTIEK-VRQ- | 85 |
| KCNH3 | FVLGNA-QVAGLFPVV-YCSDGFCDLTGFS>R<AEVMQRGCACSFLYGPDTSELVRQQ-IRK- | 85 |
| KCNH4 | FLLANA-QGTRGFPIV-YCSDGFCELTGYG>R<TEVMQKTCSCRFLYGPETSEPALQR-LHK- | 85 |
| KCNH5 | FLLGNA-QIVD-WPVV-YSNDGFCKLSGYH>R<ADVMQKSSTCSFMYGELTDKKTIEK-VRQ- | 83 |
| KCNH6 | FLIANA-QMEN-CAII-YCNDGFCELFGYS>R<VEVMQQPCTCDFLTGPNTPSSAVSR-LAQ- | 84 |
| KCNH7 | FIIANA-RVQN-CAII-YCNDGFCEMTGFS>R<PDVMQKPCTCDFLHGPETKRHDIAQ-IAQ- | 84 |
| KCNH8 | FILANA-QVAKGFPIV-YCSDGFCELAGFA>R<TEVMQKSCSCKFLFGVETNEQLMLQ-IEK- | 85 |
| CNGA1 | ---------------R-RMEN--------->-<------------------------G-ACS- | 40 |
| CNGA2 | ------------------NHNHHA------>P<PA-----------IKANGK-DDHRT-SSR- | 37 |
| CNGA3 | ---------------KVKTSD--------->-<-------------RDLNRA-EN--G-LSR- | 34 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | WLMKGVEKVIP-QPVH-SITE--------->-<------DPAQILGHGSTGDTGCTDE-PNE- | 145 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | -------------------EDAEEEG-AGG>R<QDPSRRSIRLRPLPSPSPSAAAGGTESRSS | 70 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R56Q | c.167G>A | Inherited Arrhythmia | LQTS | rs199472845 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. J Biol Chem. 1999 274(15):10113-8. 10187793 | ||
| Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | |||
| Inherited Arrhythmia | LQTS | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
| 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 | HERG channel (dys)function revealed by dynamic action potential clamp technique. Biophys J. 2005 88(1):566-78. 15475579 | |||
| 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 | |||
| p.Arg56Leu | c.167G>T | Unknown | SIFT: Polyphen: | ||