No paralogue variants have been mapped to residue 985 for KCNH2.
| KCNH2 | -----------------------EKSSDTC>N<PLSG-AFSGVSNIFS--------------- | 999 |
| KCNH1 | ----------------------ECLGPKGG>G<GDCAK----RKSWAR--------------- | 839 |
| KCNH3 | ----------------------LRLPPMPW>N<VPPDLSPRVVDGIED--------------- | 830 |
| KCNH4 | ----------------------LLIPPLGT>F<GPPDLSPRIVDGIED--------------- | 833 |
| KCNH5 | ----------------------ADQKCLKV>N<SPIRMKNGNGKGWLR--------------- | 813 |
| KCNH6 | ----------------------LEQLQAQM>N<RLESRVSSDLSRILQ--------------- | 849 |
| KCNH7 | ----------------------IDKRSHSC>K<DITDMRSWERENAHP--------------- | 1002 |
| KCNH8 | ----------------------LQLSTLNN>A<GPPDLSPRIVDGIED--------------- | 819 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------E----------------------- | 563 |
| CNGB1 | ------------------------------>-<----------A------------------- | 1180 |
| CNGB3 | ------------------------------>-<----------N------------------- | 737 |
| HCN1 | ------SPCSYTTAVCSPPVQSPLAARTFH>Y<ASPTASQLSLMQ------------------ | 731 |
| HCN2 | -----RPPPGPAPAAASPG----------->-<PPPPASP----------------------- | 780 |
| HCN3 | -----RSAWRSAGSPASPL----------->-<VPVRAGPWASTS------------------ | 669 |
| HCN4 | LQPGARSPQAAQPSPAPPGARGGLGLPEHF>L<PPPPSSRSPSSSPGQLGQPPGELSLGLATG | 989 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N985S | c.2954A>G | Inherited Arrhythmia | BrS | rs199473541 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | BrS | Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome. Cardiovasc Res. 2005 68(3):441-53. 16043162 | ||