Paralogue Annotation for KCNH2 residue 111

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 111
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 111

No paralogue variants have been mapped to residue 111 for KCNH2.



KCNH2-DGS--------------------CFLCLV>D<VV----------------------------113
KCNH1-NRT--------------------PVWFFV>K<IA----------------------------114
KCNH3-SGL--------------------PFWCLL>D<VI----------------------------114
KCNH4-DGS--------------------AFWCLL>D<MM----------------------------114
KCNH5-NRT--------------------PVWFYM>Q<IA----------------------------112
KCNH6-DAS--------------------SFRCLV>D<VV----------------------------113
KCNH7-NGS--------------------TFICNT>H<II----------------------------113
KCNH8-NGS--------------------PFWCLL>D<IV----------------------------114
CNGA1-GSF--------------------SYKSLR>K<G-G---------------------------75
CNGA2-ADV--------------------D-APQQ>G<RSG---------------------------65
CNGA3-ADS--------------------GQGSFT>G<Q-G---------------------------69
CNGA4------------------------------>-<------------------------------
CNGB1PKSSEVWRDEPAVATGAASDPAPPGRPQEM>G<PKLQARETPSLPTPIPLQPKEEPKEAPAPE234
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D111Vc.332A>T Inherited ArrhythmiaLQTSrs199472860SIFT: tolerated
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 Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome. Circ J. 2010 74(12):2562-71. 20975234