No paralogue variants have been mapped to residue 579 for KCNH2.
| KCNH2 | -LFLLMCTFALIAHWLACIWYAIGNMEQPH>M<DSR----IGWLHNLGDQIGKPYNSS----- | 600 |
| KCNH1 | -LVLLVCVFGLAAHWMACIWYSIGDYEIFD>E<DTKTIRNNSWLYQLAMDIGTPYQFN----- | 433 |
| KCNH3 | -LTLLMAVFALLAHWVACVWFYIGQREIES>S<ESELPE-IGWLQELARRLETPYYLVGRRPA | 418 |
| KCNH4 | -LTLLMSVFALLAHWMACIWYVIGRREMEA>N<DPLLWD-IGWLHELGKRLEVPYVNG----- | 415 |
| KCNH5 | -LVLLVCVFGLVAHWLACIWYSIGDYEVID>E<VTNTIQIDSWLYQLALSIGTPYRYN----- | 403 |
| KCNH6 | -LFLLMCTFALIAHWLACIWYAIGNVERPY>L<EHK----IGWLDSLGVQLGKRYNGS----- | 451 |
| KCNH7 | -LMLLMCIFALIAHWLACIWYAIGNVERPY>L<TDK----IGWLDSLGQQIGKRYNDS----- | 602 |
| KCNH8 | -LTLLMSMFALLAHWMACIWYVIGKMERED>N<SLLKWE-VGWLHELGKRLESPYYGNN---- | 410 |
| CNGA1 | RISNLVMYIVIIIHWNACVFYSISKAIGFG>N<D-------TWVYPD---INDP--------- | 340 |
| CNGA2 | RISNLVLYILVIIHWNACIYYAISKSIGFG>V<D-------TWVYPN---ITDP--------- | 315 |
| CNGA3 | RIGNLVLYILIIIHWNACIYFAISKFIGFG>T<D-------SWVYPN---ISIP--------- | 343 |
| CNGA4 | RIAKLMLYIFVVIHWNSCLYFALSRYLGFG>R<D-------AWVYPD---PAQP--------- | 209 |
| CNGB1 | RVIRTTAYLLYSLHLNSCLYYWASAYQGLG>S<T-------HWVYD----------------- | 826 |
| CNGB3 | RVIRTTGYLLFILHINACVYYWASNYEGIG>T<T-------RWVYD----------------- | 388 |
| HCN1 | RIFNLIGMMLLLCHWDGCLQFLVPLLQDFP>P<D-------CWVS-----LNEM--------- | 336 |
| HCN2 | RICNLISMMLLLCHWDGCLQFLVPMLQDFP>R<N-------CWVS-----INGM--------- | 405 |
| HCN3 | RIFNLIGMMLLLCHWDGCLQFLVPMLQDFP>P<D-------CWVS-----INHM--------- | 289 |
| HCN4 | RIVNLIGMMLLLCHWDGCLQFLVPMLQDFP>D<D-------CWVS-----INNM--------- | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M579T | c.1736T>C | Inherited Arrhythmia | LQTS | rs199473425 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||