No paralogue variants have been mapped to residue 29 for KCNH2.
| KCNH2 | TI---IR----KFEGQSRK----------->F<IIANA-RVEN-CAVI-YCNDGFCELCGYSR | 56 |
| KCNH1 | NI---VR----RS--NDTN----------->F<VLGNA-QIVD-WPIV-YSNDGFCKLSGYHR | 57 |
| KCNH3 | TI---AT----RFDGTHSN----------->F<VLGNA-QVAGLFPVV-YCSDGFCDLTGFSR | 57 |
| KCNH4 | TI---AT----RFDGTHSN----------->F<LLANA-QGTRGFPIV-YCSDGFCELTGYGR | 57 |
| KCNH5 | NI---VR----RS--SESS----------->F<LLGNA-QIVD-WPVV-YSNDGFCKLSGYHR | 55 |
| KCNH6 | TI---IR----KFEGQSRK----------->F<LIANA-QMEN-CAII-YCNDGFCELFGYSR | 56 |
| KCNH7 | TI---IR----KFEGQNKK----------->F<IIANA-RVQN-CAII-YCNDGFCEMTGFSR | 56 |
| KCNH8 | TI---AT----RFDGTHSN----------->F<ILANA-QVAKGFPIV-YCSDGFCELAGFAR | 57 |
| CNGA1 | MPNVIVP----DIEKE------------I->-<--------------R-RMEN---------- | 36 |
| CNGA2 | ----SSP----AN----------------->-<-----------------NHNHHA------P | 21 |
| CNGA3 | ----SHP----SRTH-------------L->-<--------------KVKTSD---------- | 22 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | AL---TSTISLRAQGAEISEMNSPSRRVLT>W<LMKGVEKVIP-QPVH-SITE---------- | 123 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------GKPNS------------->-<------------------------------ | 9 |
| HCN2 | G-----G----GGRPGE------------->-<------------------------------ | 12 |
| HCN3 | ------------QRPAA------------->-<------------------------------ | 9 |
| HCN4 | K-----A----WIMDEE------------->-<------------------EDAEEEG-AGGR | 40 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F29L | c.87C>A | Inherited Arrhythmia | LQTS | rs199472830 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. J Biol Chem. 1999 274(15):10113-8. 10187793 | ||
| Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | |||
| Inherited Arrhythmia | LQTS | Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638 | |||
| Inherited Arrhythmia | LQTS | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
| 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 | T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome. Heart Rhythm. 2004 1(3):285-92. 15851171 | |||
| Inherited Arrhythmia | LQTS | Classification of the long-QT syndrome based on discriminant analysis of T-wave morphology. Med Biol Eng Comput. 2006 44(7):543-9. 16937190 | |||
| 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 | Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-รก-go-go-related gene potassium channels. J Biol Chem. 2011 286(25):22160-9. 21536673 | |||
| Inherited Arrhythmia | LQTS | Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel. PLoS One. 2012 7(3):e32654. 22396785 | |||
| 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 | Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. BMC Med Genet. 2014 15:31. doi: 10.1186/1471-2350-15-31. 24606995 | |||
| Other Cardiac Phenotype | The Prevalence of Mutations in KCNQ1, KCNH2, and SCN5A in an Unselected National Cohort of Young Sudden Unexplained Death Cases. J Cardiovasc Electrophysiol. 2012 23(10):1092-1098. doi: 10.1111/j.1540-8167.2012.02 22882672 | ||||
| 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 | Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family. Scand J Clin Lab Invest. 2015 75(8):699-709. doi: 10.3109/00365513.2015.1091090. 26403377 | |||
| Inherited Arrhythmia | LQTS | Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family. Scand J Clin Lab Invest. 2015 75(8):699-709. doi: 10.3109/00365513.2015.1091090. 26403377 | |||
| p.F29S | c.86T>C | Inherited Arrhythmia | LQTS | rs199472831 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Prevalence of the congenital long-QT syndrome. Circulation. 2009 120(18):1761-7. 19841298 | ||