No paralogue variants have been mapped to residue 574 for KCNH2.
| KCNH2 | YGAAV-LFLLMCTFALIAHWLACIWYAIGN>M<EQPHMDSR----IGWLHNLGDQIGKPYNSS | 600 |
| KCNH1 | YGAAV-LVLLVCVFGLAAHWMACIWYSIGD>Y<EIFDEDTKTIRNNSWLYQLAMDIGTPYQFN | 433 |
| KCNH3 | YSAVV-LTLLMAVFALLAHWVACVWFYIGQ>R<EIESSESELPE-IGWLQELARRLETPYYLV | 413 |
| KCNH4 | CSAVV-LTLLMSVFALLAHWMACIWYVIGR>R<EMEANDPLLWD-IGWLHELGKRLEVPYVNG | 415 |
| KCNH5 | YGAAV-LVLLVCVFGLVAHWLACIWYSIGD>Y<EVIDEVTNTIQIDSWLYQLALSIGTPYRYN | 403 |
| KCNH6 | YGAAV-LFLLMCTFALIAHWLACIWYAIGN>V<ERPYLEHK----IGWLDSLGVQLGKRYNGS | 451 |
| KCNH7 | YGAAV-LMLLMCIFALIAHWLACIWYAIGN>V<ERPYLTDK----IGWLDSLGQQIGKRYNDS | 602 |
| KCNH8 | HSTIV-LTLLMSMFALLAHWMACIWYVIGK>M<EREDNSLLKWE-VGWLHELGKRLESPYYGN | 409 |
| CNGA1 | YPNIFRISNLVMYIVIIIHWNACVFYSISK>A<IGFGND-------TWVYPD---INDP---- | 340 |
| CNGA2 | YPNIFRISNLVLYILVIIHWNACIYYAISK>S<IGFGVD-------TWVYPN---ITDP---- | 315 |
| CNGA3 | YPNMFRIGNLVLYILIIIHWNACIYFAISK>F<IGFGTD-------SWVYPN---ISIP---- | 343 |
| CNGA4 | YPNAFRIAKLMLYIFVVIHWNSCLYFALSR>Y<LGFGRD-------AWVYPD---PAQP---- | 209 |
| CNGB1 | KAYVYRVIRTTAYLLYSLHLNSCLYYWASA>Y<QGLGST-------HWVYD------------ | 826 |
| CNGB3 | KAYIYRVIRTTGYLLFILHINACVYYWASN>Y<EGIGTT-------RWVYD------------ | 388 |
| HCN1 | ASAVVRIFNLIGMMLLLCHWDGCLQFLVPL>L<QDFPPD-------CWVS-----LNEM---- | 336 |
| HCN2 | ASAVMRICNLISMMLLLCHWDGCLQFLVPM>L<QDFPRN-------CWVS-----INGM---- | 405 |
| HCN3 | ASAVVRIFNLIGMMLLLCHWDGCLQFLVPM>L<QDFPPD-------CWVS-----INHM---- | 289 |
| HCN4 | ASAVVRIVNLIGMMLLLCHWDGCLQFLVPM>L<QDFPDD-------CWVS-----INNM---- | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M574V | c.1720A>G | Inherited Arrhythmia | LQTS | rs199473667 | SIFT: tolerated Polyphen: benign |
| 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 | ||
| p.M574L | c.1720A>C | Putative Benign | SIFT: Polyphen: | ||