No paralogue variants have been mapped to residue 575 for KCNH2.
| KCNH2 | GAAV-LFLLMCTFALIAHWLACIWYAIGNM>E<QPHMDSR----IGWLHNLGDQIGKPYNSS- | 600 |
| KCNH1 | GAAV-LVLLVCVFGLAAHWMACIWYSIGDY>E<IFDEDTKTIRNNSWLYQLAMDIGTPYQFN- | 433 |
| KCNH3 | SAVV-LTLLMAVFALLAHWVACVWFYIGQR>E<IESSESELPE-IGWLQELARRLETPYYLVG | 414 |
| KCNH4 | SAVV-LTLLMSVFALLAHWMACIWYVIGRR>E<MEANDPLLWD-IGWLHELGKRLEVPYVNG- | 415 |
| KCNH5 | GAAV-LVLLVCVFGLVAHWLACIWYSIGDY>E<VIDEVTNTIQIDSWLYQLALSIGTPYRYN- | 403 |
| KCNH6 | GAAV-LFLLMCTFALIAHWLACIWYAIGNV>E<RPYLEHK----IGWLDSLGVQLGKRYNGS- | 451 |
| KCNH7 | GAAV-LMLLMCIFALIAHWLACIWYAIGNV>E<RPYLTDK----IGWLDSLGQQIGKRYNDS- | 602 |
| KCNH8 | STIV-LTLLMSMFALLAHWMACIWYVIGKM>E<REDNSLLKWE-VGWLHELGKRLESPYYGNN | 410 |
| CNGA1 | PNIFRISNLVMYIVIIIHWNACVFYSISKA>I<GFGND-------TWVYPD---INDP----- | 340 |
| CNGA2 | PNIFRISNLVLYILVIIHWNACIYYAISKS>I<GFGVD-------TWVYPN---ITDP----- | 315 |
| CNGA3 | PNMFRIGNLVLYILIIIHWNACIYFAISKF>I<GFGTD-------SWVYPN---ISIP----- | 343 |
| CNGA4 | PNAFRIAKLMLYIFVVIHWNSCLYFALSRY>L<GFGRD-------AWVYPD---PAQP----- | 209 |
| CNGB1 | AYVYRVIRTTAYLLYSLHLNSCLYYWASAY>Q<GLGST-------HWVYD------------- | 826 |
| CNGB3 | AYIYRVIRTTGYLLFILHINACVYYWASNY>E<GIGTT-------RWVYD------------- | 388 |
| HCN1 | SAVVRIFNLIGMMLLLCHWDGCLQFLVPLL>Q<DFPPD-------CWVS-----LNEM----- | 336 |
| HCN2 | SAVMRICNLISMMLLLCHWDGCLQFLVPML>Q<DFPRN-------CWVS-----INGM----- | 405 |
| HCN3 | SAVVRIFNLIGMMLLLCHWDGCLQFLVPML>Q<DFPPD-------CWVS-----INHM----- | 289 |
| HCN4 | SAVVRIVNLIGMMLLLCHWDGCLQFLVPML>Q<DFPDD-------CWVS-----INNM----- | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E575G | c.1724A>G | Inherited Arrhythmia | LQTS | rs199473424 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472 | ||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
| p.E575K | c.1723G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715 | ||