No paralogue variants have been mapped to residue 70 for KCNH2.
| KCNH2 | VI-YCNDGFCELCGYSRAEVMQRPCTCDFL>H<GPRTQRRAAAQ-IAQ--------------- | 84 |
| KCNH1 | IV-YSNDGFCKLSGYHRAEVMQKSSTCSFM>Y<GELTDKDTIEK-VRQ--------------- | 85 |
| KCNH3 | VV-YCSDGFCDLTGFSRAEVMQRGCACSFL>Y<GPDTSELVRQQ-IRK--------------- | 85 |
| KCNH4 | IV-YCSDGFCELTGYGRTEVMQKTCSCRFL>Y<GPETSEPALQR-LHK--------------- | 85 |
| KCNH5 | VV-YSNDGFCKLSGYHRADVMQKSSTCSFM>Y<GELTDKKTIEK-VRQ--------------- | 83 |
| KCNH6 | II-YCNDGFCELFGYSRVEVMQQPCTCDFL>T<GPNTPSSAVSR-LAQ--------------- | 84 |
| KCNH7 | II-YCNDGFCEMTGFSRPDVMQKPCTCDFL>H<GPETKRHDIAQ-IAQ--------------- | 84 |
| KCNH8 | IV-YCSDGFCELAGFARTEVMQKSCSCKFL>F<GVETNEQLMLQ-IEK--------------- | 85 |
| CNGA1 | -R-RMEN----------------------->-<----------G-ACS--------------- | 40 |
| CNGA2 | ----NHNHHA------PPA----------->I<KANGK-DDHRT-SSR--------------- | 37 |
| CNGA3 | -KVKTSD----------------------->R<DLNRA-EN--G-LSR--------------- | 34 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | VH-SITE----------------DPAQILG>H<GSTGDTGCTDE-PNE--------------- | 145 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | -----EDAEEEG-AGGRQDPSRRSIRLRPL>P<SPSPSAAAGGTESRSSALGAADSEGPARGA | 84 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.H70N | c.208C>A | Inherited Arrhythmia | LQTS | rs199473418 | SIFT: tolerated Polyphen: possibly 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 | |||
| p.H70R | c.209A>G | Inherited Arrhythmia | LQTS | rs199473419 | SIFT: tolerated Polyphen: probably damaging |
| 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 | 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 | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| 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 | 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| 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 | 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 | 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 | |||