No paralogue variants have been mapped to residue 33 for KCNH2.
| KCNH2 | -IR----KFEGQSRK-----------FIIA>N<A-RVEN-CAVI-YCNDGFCELCGYSRAEVM | 60 |
| KCNH1 | -VR----RS--NDTN-----------FVLG>N<A-QIVD-WPIV-YSNDGFCKLSGYHRAEVM | 61 |
| KCNH3 | -AT----RFDGTHSN-----------FVLG>N<A-QVAGLFPVV-YCSDGFCDLTGFSRAEVM | 61 |
| KCNH4 | -AT----RFDGTHSN-----------FLLA>N<A-QGTRGFPIV-YCSDGFCELTGYGRTEVM | 61 |
| KCNH5 | -VR----RS--SESS-----------FLLG>N<A-QIVD-WPVV-YSNDGFCKLSGYHRADVM | 59 |
| KCNH6 | -IR----KFEGQSRK-----------FLIA>N<A-QMEN-CAII-YCNDGFCELFGYSRVEVM | 60 |
| KCNH7 | -IR----KFEGQNKK-----------FIIA>N<A-RVQN-CAII-YCNDGFCEMTGFSRPDVM | 60 |
| KCNH8 | -AT----RFDGTHSN-----------FILA>N<A-QVAKGFPIV-YCSDGFCELAGFARTEVM | 61 |
| CNGA1 | IVP----DIEKE------------I----->-<----------R-RMEN-------------- | 36 |
| CNGA2 | SSP----AN--------------------->-<-------------NHNHHA------PPA-- | 23 |
| CNGA3 | SHP----SRTH-------------L----->-<----------KVKTSD-------------- | 22 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | -TSTISLRAQGAEISEMNSPSRRVLTWLMK>G<VEKVIP-QPVH-SITE-------------- | 123 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | --------GKPNS----------------->-<------------------------------ | 9 |
| HCN2 | --G----GGRPGE----------------->-<------------------------------ | 12 |
| HCN3 | --------QRPAA----------------->-<------------------------------ | 9 |
| HCN4 | --A----WIMDEE----------------->-<--------------EDAEEEG-AGGRQDPS | 44 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N33T | c.98A>C | Inherited Arrhythmia | LQTS | rs199473487 | 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 | 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 | |||
| Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | ||||
| Putative Benign | 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 | |||
| 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 | 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 | |||