No paralogue variants have been mapped to residue 982 for KCNH2.
| KCNH2 | --------------------------EKSS>D<TCNPLSG-AFSGVSNIFS------------ | 999 |
| KCNH1 | -------------------------ECLGP>K<GGGGDCAK----RKSWAR------------ | 839 |
| KCNH3 | -------------------------LRLPP>M<PWNVPPDLSPRVVDGIED------------ | 830 |
| KCNH4 | -------------------------LLIPP>L<GTFGPPDLSPRIVDGIED------------ | 833 |
| KCNH5 | -------------------------ADQKC>L<KVNSPIRMKNGNGKGWLR------------ | 813 |
| KCNH6 | -------------------------LEQLQ>A<QMNRLESRVSSDLSRILQ------------ | 849 |
| KCNH7 | -------------------------IDKRS>H<SCKDITDMRSWERENAHP------------ | 1002 |
| KCNH8 | -------------------------LQLST>L<NNAGPPDLSPRIVDGIED------------ | 819 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<---------E-------------------- | 563 |
| CNGB1 | ------------------------------>-<-------------A---------------- | 1180 |
| CNGB3 | ------------------------------>-<-------------N---------------- | 737 |
| HCN1 | ---------SPCSYTTAVCSPPVQSPLAAR>T<FHYASPTASQLSLMQ--------------- | 731 |
| HCN2 | --------RPPPGPAPAAASPG-------->-<---PPPPASP-------------------- | 780 |
| HCN3 | --------RSAWRSAGSPASPL-------->-<---VPVRAGPWASTS--------------- | 669 |
| HCN4 | LTPLQPGARSPQAAQPSPAPPGARGGLGLP>E<HFLPPPPSSRSPSSSPGQLGQPPGELSLGL | 986 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D982N | c.2944G>A | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 | |||