No paralogue variants have been mapped to residue 562 for KCNH2.
| KCNH2 | KLDRY-----SEYGAAV-LFLLMCTFALIA>H<WLACIWYAIGNMEQPHMDSR----IGWLHN | 588 |
| KCNH1 | KLDHY-----IEYGAAV-LVLLVCVFGLAA>H<WMACIWYSIGDYEIFDEDTKTIRNNSWLYQ | 421 |
| KCNH3 | RLDRY-----SQYSAVV-LTLLMAVFALLA>H<WVACVWFYIGQREIESSESELPE-IGWLQE | 401 |
| KCNH4 | KLERY-----SQCSAVV-LTLLMSVFALLA>H<WMACIWYVIGRREMEANDPLLWD-IGWLHE | 403 |
| KCNH5 | KLDHY-----LEYGAAV-LVLLVCVFGLVA>H<WLACIWYSIGDYEVIDEVTNTIQIDSWLYQ | 391 |
| KCNH6 | KLDRY-----SEYGAAV-LFLLMCTFALIA>H<WLACIWYAIGNVERPYLEHK----IGWLDS | 439 |
| KCNH7 | KLDRY-----SEYGAAV-LMLLMCIFALIA>H<WLACIWYAIGNVERPYLTDK----IGWLDS | 590 |
| KCNH8 | KLDRY-----SQHSTIV-LTLLMSMFALLA>H<WMACIWYVIGKMEREDNSLLKWE-VGWLHE | 397 |
| CNGA1 | RTETR-----TNYPNIFRISNLVMYIVIII>H<WNACVFYSISKAIGFGND-------TWVYP | 335 |
| CNGA2 | RTETR-----TNYPNIFRISNLVLYILVII>H<WNACIYYAISKSIGFGVD-------TWVYP | 310 |
| CNGA3 | RTETR-----TNYPNMFRIGNLVLYILIII>H<WNACIYFAISKFIGFGTD-------SWVYP | 338 |
| CNGA4 | RTETR-----TAYPNAFRIAKLMLYIFVVI>H<WNSCLYFALSRYLGFGRD-------AWVYP | 204 |
| CNGB1 | RLESI-----LSKAYVYRVIRTTAYLLYSL>H<LNSCLYYWASAYQGLGST-------HWVYD | 826 |
| CNGB3 | HLESI-----MDKAYIYRVIRTTGYLLFIL>H<INACVYYWASNYEGIGTT-------RWVYD | 388 |
| HCN1 | QWEEIFHMTYDLASAVVRIFNLIGMMLLLC>H<WDGCLQFLVPLLQDFPPD-------CWVS- | 332 |
| HCN2 | QWEEIFHMTYDLASAVMRICNLISMMLLLC>H<WDGCLQFLVPMLQDFPRN-------CWVS- | 401 |
| HCN3 | QWEEIFHMTYDLASAVVRIFNLIGMMLLLC>H<WDGCLQFLVPMLQDFPPD-------CWVS- | 285 |
| HCN4 | QWEEIFHMTYDLASAVVRIVNLIGMMLLLC>H<WDGCLQFLVPMLQDFPDD-------CWVS- | 452 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.H562P | c.1685A>C | Inherited Arrhythmia | LQTS | rs199472922 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing. J Mol Cell Cardiol. 2004 37(1):79-89. 15242738 | ||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| p.H562R | c.1685A>G | Inherited Arrhythmia | LQTS | rs199472922 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| 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 | |||
| Inherited Arrhythmia | LQTS | Heterogeneous Phenotype of Long QT Syndrome Caused by the KCNH2-H562R Mutation: Importance of Familial Genetic Testing. Rev Esp Cardiol (Engl Ed). 2015 68(10):861-8. doi: 10.1016/j.rec.2014.10.022. 25819988 | |||
| p.His562Tyr | c.1684C>T | Unknown | SIFT: Polyphen: | ||