Paralogue Annotation for KCNH2 residue 33

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 33
Reference Amino Acid: N - Asparagine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 33

No paralogue variants have been mapped to residue 33 for KCNH2.



KCNH2-IR----KFEGQSRK-----------FIIA>N<A-RVEN-CAVI-YCNDGFCELCGYSRAEVM60
KCNH1-VR----RS--NDTN-----------FVLG>N<A-QIVD-WPIV-YSNDGFCKLSGYHRAEVM61
KCNH3-AT----RFDGTHSN-----------FVLG>N<A-QVAGLFPVV-YCSDGFCDLTGFSRAEVM61
KCNH4-AT----RFDGTHSN-----------FLLA>N<A-QGTRGFPIV-YCSDGFCELTGYGRTEVM61
KCNH5-VR----RS--SESS-----------FLLG>N<A-QIVD-WPVV-YSNDGFCKLSGYHRADVM59
KCNH6-IR----KFEGQSRK-----------FLIA>N<A-QMEN-CAII-YCNDGFCELFGYSRVEVM60
KCNH7-IR----KFEGQNKK-----------FIIA>N<A-RVQN-CAII-YCNDGFCEMTGFSRPDVM60
KCNH8-AT----RFDGTHSN-----------FILA>N<A-QVAKGFPIV-YCSDGFCELAGFARTEVM61
CNGA1IVP----DIEKE------------I----->-<----------R-RMEN--------------36
CNGA2SSP----AN--------------------->-<-------------NHNHHA------PPA--23
CNGA3SHP----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-AGGRQDPS44
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N33Tc.98A>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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