No paralogue variants have been mapped to residue 590 for KCNH2.
| KCNH2 | LACIWYAIGNMEQPHMDSR----IGWLHNL>G<DQIGKPYNSS----------G--------- | 601 |
| KCNH1 | MACIWYSIGDYEIFDEDTKTIRNNSWLYQL>A<MDIGTPYQFN--------GSG--------- | 436 |
| KCNH3 | VACVWFYIGQREIESSESELPE-IGWLQEL>A<RRLETPYYLVGRRPAGGNSSGQSDNCSSSS | 433 |
| KCNH4 | MACIWYVIGRREMEANDPLLWD-IGWLHEL>G<KRLEVPYVNG-------------------- | 415 |
| KCNH5 | LACIWYSIGDYEVIDEVTNTIQIDSWLYQL>A<LSIGTPYRYN--------T-S--------- | 405 |
| KCNH6 | LACIWYAIGNVERPYLEHK----IGWLDSL>G<VQLGKRYNGS----------D--------- | 452 |
| KCNH7 | LACIWYAIGNVERPYLTDK----IGWLDSL>G<QQIGKRYNDS----------D--------- | 603 |
| KCNH8 | MACIWYVIGKMEREDNSLLKWE-VGWLHEL>G<KRLESPYYGNN------------------- | 410 |
| CNGA1 | NACVFYSISKAIGFGND-------TWVYPD>-<--INDP------------------------ | 340 |
| CNGA2 | NACIYYAISKSIGFGVD-------TWVYPN>-<--ITDP------------------------ | 315 |
| CNGA3 | NACIYFAISKFIGFGTD-------SWVYPN>-<--ISIP------------------------ | 343 |
| CNGA4 | NSCLYFALSRYLGFGRD-------AWVYPD>-<--PAQP------------------------ | 209 |
| CNGB1 | NSCLYYWASAYQGLGST-------HWVYD->-<------------------------------ | 826 |
| CNGB3 | NACVYYWASNYEGIGTT-------RWVYD->-<------------------------------ | 388 |
| HCN1 | DGCLQFLVPLLQDFPPD-------CWVS-->-<--LNEM------------------------ | 336 |
| HCN2 | DGCLQFLVPMLQDFPRN-------CWVS-->-<--INGM------------------------ | 405 |
| HCN3 | DGCLQFLVPMLQDFPPD-------CWVS-->-<--INHM------------------------ | 289 |
| HCN4 | DGCLQFLVPMLQDFPDD-------CWVS-->-<--INNM------------------------ | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G590V | c.1769G>T | Inherited Arrhythmia | LQTS | rs199472929 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | ||