No paralogue variants have been mapped to residue 66 for KCNH2.
| KCNH2 | N-CAVI-YCNDGFCELCGYSRAEVMQRPCT>C<DFLHGPRTQRRAAAQ-IAQ----------- | 84 |
| KCNH1 | D-WPIV-YSNDGFCKLSGYHRAEVMQKSST>C<SFMYGELTDKDTIEK-VRQ----------- | 85 |
| KCNH3 | GLFPVV-YCSDGFCDLTGFSRAEVMQRGCA>C<SFLYGPDTSELVRQQ-IRK----------- | 85 |
| KCNH4 | RGFPIV-YCSDGFCELTGYGRTEVMQKTCS>C<RFLYGPETSEPALQR-LHK----------- | 85 |
| KCNH5 | D-WPVV-YSNDGFCKLSGYHRADVMQKSST>C<SFMYGELTDKKTIEK-VRQ----------- | 83 |
| KCNH6 | N-CAII-YCNDGFCELFGYSRVEVMQQPCT>C<DFLTGPNTPSSAVSR-LAQ----------- | 84 |
| KCNH7 | N-CAII-YCNDGFCEMTGFSRPDVMQKPCT>C<DFLHGPETKRHDIAQ-IAQ----------- | 84 |
| KCNH8 | KGFPIV-YCSDGFCELAGFARTEVMQKSCS>C<KFLFGVETNEQLMLQ-IEK----------- | 85 |
| CNGA1 | -----R-RMEN------------------->-<--------------G-ACS----------- | 40 |
| CNGA2 | --------NHNHHA------PPA------->-<---IKANGK-DDHRT-SSR----------- | 37 |
| CNGA3 | -----KVKTSD------------------->-<---RDLNRA-EN--G-LSR----------- | 34 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | P-QPVH-SITE----------------DPA>Q<ILGHGSTGDTGCTDE-PNE----------- | 145 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | ---------EDAEEEG-AGGRQDPSRRSIR>L<RPLPSPSPSAAAGGTESRSSALGAADSEGP | 80 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.C66G | c.196T>G | Inherited Arrhythmia | LQTS | rs199473416 | SIFT: deleterious Polyphen: probably 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 | 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 | |||