No paralogue variants have been mapped to residue 560 for KCNH2.
| KCNH2 | ARKLDRY-----SEYGAAV-LFLLMCTFAL>I<AHWLACIWYAIGNMEQPHMDSR----IGWL | 586 |
| KCNH1 | ARKLDHY-----IEYGAAV-LVLLVCVFGL>A<AHWMACIWYSIGDYEIFDEDTKTIRNNSWL | 419 |
| KCNH3 | LPRLDRY-----SQYSAVV-LTLLMAVFAL>L<AHWVACVWFYIGQREIESSESELPE-IGWL | 399 |
| KCNH4 | LQKLERY-----SQCSAVV-LTLLMSVFAL>L<AHWMACIWYVIGRREMEANDPLLWD-IGWL | 401 |
| KCNH5 | ARKLDHY-----LEYGAAV-LVLLVCVFGL>V<AHWLACIWYSIGDYEVIDEVTNTIQIDSWL | 389 |
| KCNH6 | ARKLDRY-----SEYGAAV-LFLLMCTFAL>I<AHWLACIWYAIGNVERPYLEHK----IGWL | 437 |
| KCNH7 | ARKLDRY-----SEYGAAV-LMLLMCIFAL>I<AHWLACIWYAIGNVERPYLTDK----IGWL | 588 |
| KCNH8 | LQKLDRY-----SQHSTIV-LTLLMSMFAL>L<AHWMACIWYVIGKMEREDNSLLKWE-VGWL | 395 |
| CNGA1 | FQRTETR-----TNYPNIFRISNLVMYIVI>I<IHWNACVFYSISKAIGFGND-------TWV | 333 |
| CNGA2 | FDRTETR-----TNYPNIFRISNLVLYILV>I<IHWNACIYYAISKSIGFGVD-------TWV | 308 |
| CNGA3 | FDRTETR-----TNYPNMFRIGNLVLYILI>I<IHWNACIYFAISKFIGFGTD-------SWV | 336 |
| CNGA4 | FDRTETR-----TAYPNAFRIAKLMLYIFV>V<IHWNSCLYFALSRYLGFGRD-------AWV | 202 |
| CNGB1 | NSRLESI-----LSKAYVYRVIRTTAYLLY>S<LHLNSCLYYWASAYQGLGST-------HWV | 824 |
| CNGB3 | NHHLESI-----MDKAYIYRVIRTTGYLLF>I<LHINACVYYWASNYEGIGTT-------RWV | 386 |
| HCN1 | IHQWEEIFHMTYDLASAVVRIFNLIGMMLL>L<CHWDGCLQFLVPLLQDFPPD-------CWV | 331 |
| HCN2 | IHQWEEIFHMTYDLASAVMRICNLISMMLL>L<CHWDGCLQFLVPMLQDFPRN-------CWV | 400 |
| HCN3 | IHQWEEIFHMTYDLASAVVRIFNLIGMMLL>L<CHWDGCLQFLVPMLQDFPPD-------CWV | 284 |
| HCN4 | IHQWEEIFHMTYDLASAVVRIVNLIGMMLL>L<CHWDGCLQFLVPMLQDFPDD-------CWV | 451 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I560M | c.1680C>G | Putative Benign | SIFT: Polyphen: | ||
| p.I560T | c.1679T>C | Inherited Arrhythmia | SQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | SQTS | Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. Int J Cardiol. 2015 190:393-402. doi: 10.1016/j.ijcard.2015.04.090. 25974115 | ||