No paralogue variants have been mapped to residue 81 for KCNH2.
| KCNH2 | LCGYSRAEVMQRPCTCDFLHGPRTQRRAAA>Q<-IAQ-------------------------- | 84 |
| KCNH1 | LSGYHRAEVMQKSSTCSFMYGELTDKDTIE>K<-VRQ-------------------------- | 85 |
| KCNH3 | LTGFSRAEVMQRGCACSFLYGPDTSELVRQ>Q<-IRK-------------------------- | 85 |
| KCNH4 | LTGYGRTEVMQKTCSCRFLYGPETSEPALQ>R<-LHK-------------------------- | 85 |
| KCNH5 | LSGYHRADVMQKSSTCSFMYGELTDKKTIE>K<-VRQ-------------------------- | 83 |
| KCNH6 | LFGYSRVEVMQQPCTCDFLTGPNTPSSAVS>R<-LAQ-------------------------- | 84 |
| KCNH7 | MTGFSRPDVMQKPCTCDFLHGPETKRHDIA>Q<-IAQ-------------------------- | 84 |
| KCNH8 | LAGFARTEVMQKSCSCKFLFGVETNEQLML>Q<-IEK-------------------------- | 85 |
| CNGA1 | ------------------------------>G<-ACS-------------------------- | 40 |
| CNGA2 | -----PPA-----------IKANGK-DDHR>T<-SSR-------------------------- | 37 |
| CNGA3 | -------------------RDLNRA-EN-->G<-LSR-------------------------- | 34 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | ------------DPAQILGHGSTGDTGCTD>E<-PNE-------------------------- | 145 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<----------------------------GA | 11 |
| HCN4 | G-AGGRQDPSRRSIRLRPLPSPSPSAAAGG>T<ESRSSALGAADSEGPARGAGKSSTNGDCRR | 95 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q81H | c.243G>C | Inherited Arrhythmia | LQTS | rs199472849 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Posthumous diagnosis of long QT syndrome from neonatal screening cards. Heart Rhythm. 2010 7(4):481-6. 20167303 | ||
| p.Q81E | c.241C>G | Putative Benign | SIFT: Polyphen: | ||