No paralogue variants have been mapped to residue 563 for KCNH2.
| KCNH2 | LDRY-----SEYGAAV-LFLLMCTFALIAH>W<LACIWYAIGNMEQPHMDSR----IGWLHNL | 589 |
| KCNH1 | LDHY-----IEYGAAV-LVLLVCVFGLAAH>W<MACIWYSIGDYEIFDEDTKTIRNNSWLYQL | 422 |
| KCNH3 | LDRY-----SQYSAVV-LTLLMAVFALLAH>W<VACVWFYIGQREIESSESELPE-IGWLQEL | 402 |
| KCNH4 | LERY-----SQCSAVV-LTLLMSVFALLAH>W<MACIWYVIGRREMEANDPLLWD-IGWLHEL | 404 |
| KCNH5 | LDHY-----LEYGAAV-LVLLVCVFGLVAH>W<LACIWYSIGDYEVIDEVTNTIQIDSWLYQL | 392 |
| KCNH6 | LDRY-----SEYGAAV-LFLLMCTFALIAH>W<LACIWYAIGNVERPYLEHK----IGWLDSL | 440 |
| KCNH7 | LDRY-----SEYGAAV-LMLLMCIFALIAH>W<LACIWYAIGNVERPYLTDK----IGWLDSL | 591 |
| KCNH8 | LDRY-----SQHSTIV-LTLLMSMFALLAH>W<MACIWYVIGKMEREDNSLLKWE-VGWLHEL | 398 |
| CNGA1 | TETR-----TNYPNIFRISNLVMYIVIIIH>W<NACVFYSISKAIGFGND-------TWVYPD | 336 |
| CNGA2 | TETR-----TNYPNIFRISNLVLYILVIIH>W<NACIYYAISKSIGFGVD-------TWVYPN | 311 |
| CNGA3 | TETR-----TNYPNMFRIGNLVLYILIIIH>W<NACIYFAISKFIGFGTD-------SWVYPN | 339 |
| CNGA4 | TETR-----TAYPNAFRIAKLMLYIFVVIH>W<NSCLYFALSRYLGFGRD-------AWVYPD | 205 |
| CNGB1 | LESI-----LSKAYVYRVIRTTAYLLYSLH>L<NSCLYYWASAYQGLGST-------HWVYD- | 826 |
| CNGB3 | LESI-----MDKAYIYRVIRTTGYLLFILH>I<NACVYYWASNYEGIGTT-------RWVYD- | 388 |
| HCN1 | WEEIFHMTYDLASAVVRIFNLIGMMLLLCH>W<DGCLQFLVPLLQDFPPD-------CWVS-- | 332 |
| HCN2 | WEEIFHMTYDLASAVMRICNLISMMLLLCH>W<DGCLQFLVPMLQDFPRN-------CWVS-- | 401 |
| HCN3 | WEEIFHMTYDLASAVVRIFNLIGMMLLLCH>W<DGCLQFLVPMLQDFPPD-------CWVS-- | 285 |
| HCN4 | WEEIFHMTYDLASAVVRIVNLIGMMLLLCH>W<DGCLQFLVPMLQDFPDD-------CWVS-- | 452 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.W563C | c.1689G>T | Inherited Arrhythmia | LQTS | rs199473517 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013 | ||
| p.W563G | c.1687T>G | Inherited Arrhythmia | LQTS | rs199472923 | SIFT: deleterious Polyphen: probably 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 | ||
| p.Trp563Cys | c.1689G>C | Unknown | SIFT: Polyphen: | ||