No paralogue variants have been mapped to residue 591 for KCNH2.
| KCNH2 | ACIWYAIGNMEQPHMDSR----IGWLHNLG>D<QIGKPYNSS----------G---------- | 601 |
| KCNH1 | ACIWYSIGDYEIFDEDTKTIRNNSWLYQLA>M<DIGTPYQFN--------GSG---------- | 436 |
| KCNH3 | ACVWFYIGQREIESSESELPE-IGWLQELA>R<RLETPYYLVGRRPAGGNSSGQSDNCSSSSE | 434 |
| KCNH4 | ACIWYVIGRREMEANDPLLWD-IGWLHELG>K<RLEVPYVNG--------------------- | 415 |
| KCNH5 | ACIWYSIGDYEVIDEVTNTIQIDSWLYQLA>L<SIGTPYRYN--------T-S---------- | 405 |
| KCNH6 | ACIWYAIGNVERPYLEHK----IGWLDSLG>V<QLGKRYNGS----------D---------- | 452 |
| KCNH7 | ACIWYAIGNVERPYLTDK----IGWLDSLG>Q<QIGKRYNDS----------D---------- | 603 |
| KCNH8 | ACIWYVIGKMEREDNSLLKWE-VGWLHELG>K<RLESPYYGNN-------------------- | 410 |
| CNGA1 | ACVFYSISKAIGFGND-------TWVYPD->-<-INDP------------------------- | 340 |
| CNGA2 | ACIYYAISKSIGFGVD-------TWVYPN->-<-ITDP------------------------- | 315 |
| CNGA3 | ACIYFAISKFIGFGTD-------SWVYPN->-<-ISIP------------------------- | 343 |
| CNGA4 | SCLYFALSRYLGFGRD-------AWVYPD->-<-PAQP------------------------- | 209 |
| CNGB1 | SCLYYWASAYQGLGST-------HWVYD-->-<------------------------------ | 826 |
| CNGB3 | ACVYYWASNYEGIGTT-------RWVYD-->-<------------------------------ | 388 |
| HCN1 | GCLQFLVPLLQDFPPD-------CWVS--->-<-LNEM------------------------- | 336 |
| HCN2 | GCLQFLVPMLQDFPRN-------CWVS--->-<-INGM------------------------- | 405 |
| HCN3 | GCLQFLVPMLQDFPPD-------CWVS--->-<-INHM------------------------- | 289 |
| HCN4 | GCLQFLVPMLQDFPDD-------CWVS--->-<-INNM------------------------- | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D591N | c.1771G>A | Putative Benign | rs376319070 | SIFT: tolerated Polyphen: benign | |
| p.D591H | c.1771G>C | Putative Benign | SIFT: Polyphen: |