No paralogue variants have been mapped to residue 53 for KCNH2.
| KCNH2 | ---FIIANA-RVEN-CAVI-YCNDGFCELC>G<YSRAEVMQRPCTCDFLHGPRTQRRAAAQ-I | 82 |
| KCNH1 | ---FVLGNA-QIVD-WPIV-YSNDGFCKLS>G<YHRAEVMQKSSTCSFMYGELTDKDTIEK-V | 83 |
| KCNH3 | ---FVLGNA-QVAGLFPVV-YCSDGFCDLT>G<FSRAEVMQRGCACSFLYGPDTSELVRQQ-I | 83 |
| KCNH4 | ---FLLANA-QGTRGFPIV-YCSDGFCELT>G<YGRTEVMQKTCSCRFLYGPETSEPALQR-L | 83 |
| KCNH5 | ---FLLGNA-QIVD-WPVV-YSNDGFCKLS>G<YHRADVMQKSSTCSFMYGELTDKKTIEK-V | 81 |
| KCNH6 | ---FLIANA-QMEN-CAII-YCNDGFCELF>G<YSRVEVMQQPCTCDFLTGPNTPSSAVSR-L | 82 |
| KCNH7 | ---FIIANA-RVQN-CAII-YCNDGFCEMT>G<FSRPDVMQKPCTCDFLHGPETKRHDIAQ-I | 82 |
| KCNH8 | ---FILANA-QVAKGFPIV-YCSDGFCELA>G<FARTEVMQKSCSCKFLFGVETNEQLMLQ-I | 83 |
| CNGA1 | -I----------------R-RMEN------>-<---------------------------G-A | 38 |
| CNGA2 | ---------------------NHNHHA--->-<--PPA-----------IKANGK-DDHRT-S | 35 |
| CNGA3 | -L----------------KVKTSD------>-<----------------RDLNRA-EN--G-L | 32 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | VLTWLMKGVEKVIP-QPVH-SITE------>-<---------DPAQILGHGSTGDTGCTDE-P | 143 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | ----------------------EDAEEEG->A<GGRQDPSRRSIRLRPLPSPSPSAAAGGTES | 67 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G53D | c.158G>A | Inherited Arrhythmia | LQTS | rs199473491 | SIFT: deleterious 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.G53R | c.157G>C | Inherited Arrhythmia | LQTS | rs199472842 | SIFT: deleterious 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 | 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 | 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 | 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.G53S | c.157G>A | Inherited Arrhythmia | LQTS | rs199472842 | SIFT: deleterious Polyphen: benign |
| 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.G53V | c.158G>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||