No paralogue variants have been mapped to residue 328 for KCNH2.
| KCNH2 | PPPRHASTGAMHPLRSGLLNSTSDSDLVRY>R<---TISKIPQITLNFVDLKGDPFLASP-T- | 353 |
| KCNH1 | ----------------------------KF>A<------------------RLTRALTSS-R- | 162 |
| KCNH3 | -----------------------------S>-<-----------------KGFNANRRRS-R- | 171 |
| KCNH4 | -----------------------------A>-<----------------TWKFRSARRRS-R- | 173 |
| KCNH5 | ----------------------------KF>A<------------------RLTRALTNS-R- | 160 |
| KCNH6 | ------------------------TGRGKY>R<---TISQIPQFTLNFVEFNLEKHRSSS-T- | 201 |
| KCNH7 | EDNGRNVKGPFNHIKSSLLGSTSDSNLNKY>S<---TINKIPQLTLNFSEVKTEKKNSSPPS- | 353 |
| KCNH8 | -----------------------------A>-<----------------GTHFDSARRRS-R- | 168 |
| CNGA1 | ------------------------------>-<--------------KKK-KKKEKKSKS-D- | 117 |
| CNGA2 | ------------------------------>-<--------------FLE-RFRGPELQT-V- | 106 |
| CNGA3 | ------------------------------>-<--------------FPD-RFRGAELKE-V- | 110 |
| CNGA4 | ------------------------------>-<-----------------------KVKT-T- | 10 |
| CNGB1 | DTDGQDRAASTASTNSAIINDRLQELVKLF>K<ERTEKV-KEKLIDPDVTSDEE-SPKPSPA- | 603 |
| CNGB3 | NK------PPAAPVINEYADAQLHNLVKRM>R<QRTALY-KKKLVEGDLSS-----PEASPQ- | 163 |
| HCN1 | ------------------------------>-<------------------EDAEGPR-R-QY | 91 |
| HCN2 | ------------------------------>-<------------------PAGEPRG-S-QA | 160 |
| HCN3 | ------------------------------>-<------------------PE------P--- | 44 |
| HCN4 | ------------------------------>-<------------------PEAEVRL-G-QA | 211 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R328C | c.982C>T | Conflict | rs199473505 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | LQTS | Non-invasive testing of acquired long QT syndrome: evidence for multiple arrhythmogenic substrates. Cardiovasc Res. 2001 50(2):386-98. 11334843 | ||
| Inherited Arrhythmia | LQTS | Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 82(3):182-8. 14760488 | |||
| 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 | Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome. Heart Rhythm. 2005 2(11):1238-49. 16253915 | |||
| 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 | Acute respiratory distress syndrome with transiently impaired left ventricular function and Torsades de Pointes arrhythmia unmasking congenital long QT syndrome in a 25-yr-old woman. Br J Anaesth. 2006 97(2):150-3. 16720674 | |||
| Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | |||
| Inherited Arrhythmia | LQTS | Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition. Heart Rhythm. 2007 4(2):170-4. 17275752 | |||
| 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 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Putative Benign | 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 | ||||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| Inherited Arrhythmia | LQTS | An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management. Ann Noninvasive Electrocardiol. 2013 18(1):75-8. doi: 10.1111/anec.12043. 23347029 | |||
| p.R328H | c.983G>A | Putative Benign | SIFT: Polyphen: | ||