Paralogue Annotation for KCNH2 residue 43

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 43
Reference Amino Acid: Y - Tyrosine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 43

No paralogue variants have been mapped to residue 43 for KCNH2.



KCNH2RK-----------FIIANA-RVEN-CAVI->Y<CNDGFCELCGYSRAEVMQRPCTCDFLHGPR73
KCNH1TN-----------FVLGNA-QIVD-WPIV->Y<SNDGFCKLSGYHRAEVMQKSSTCSFMYGEL74
KCNH3SN-----------FVLGNA-QVAGLFPVV->Y<CSDGFCDLTGFSRAEVMQRGCACSFLYGPD74
KCNH4SN-----------FLLANA-QGTRGFPIV->Y<CSDGFCELTGYGRTEVMQKTCSCRFLYGPE74
KCNH5SS-----------FLLGNA-QIVD-WPVV->Y<SNDGFCKLSGYHRADVMQKSSTCSFMYGEL72
KCNH6RK-----------FLIANA-QMEN-CAII->Y<CNDGFCELFGYSRVEVMQQPCTCDFLTGPN73
KCNH7KK-----------FIIANA-RVQN-CAII->Y<CNDGFCEMTGFSRPDVMQKPCTCDFLHGPE73
KCNH8SN-----------FILANA-QVAKGFPIV->Y<CSDGFCELAGFARTEVMQKSCSCKFLFGVE74
CNGA1-----------I----------------R->R<MEN---------------------------36
CNGA2------------------------------>-<NHNHHA------PPA-----------IKAN27
CNGA3-----------L----------------KV>K<TSD-----------------------RDLN26
CNGA4------------------------------>-<------------------------------
CNGB1ISEMNSPSRRVLTWLMKGVEKVIP-QPVH->S<ITE----------------DPAQILGHGST134
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<-EDAEEEG-AGGRQDPSRRSIRLRPLPSPS57
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y43Cc.128A>G Inherited ArrhythmiaLQTSrs199472836SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
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 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
p.Y43Dc.127T>G Inherited ArrhythmiaLQTSrs199472837SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445
Inherited ArrhythmiaLQTS Adrenergic regulation of the rapid component of delayed rectifier K+ current: implications for arrhythmogenesis in LQT2 patients. Heart Rhythm. 2009 6(7):1038-46. 19419905