Paralogue Annotation for KCNH2 residue 1116

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1116
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1116

No paralogue variants have been mapped to residue 1116 for KCNH2.



KCNH2SPLL-----PVSPLP-TLTLDSLSQVSQFM>A<CEELPPGAPELPQ-----------------1129
KCNH1EVRH-----ELKEDIKALNAKMTNIEKQLS>E<ILRILTSRRS--------------------963
KCNH3CPASTSGLLQPLCVDTGASSYCLQPPAGSV>L<SGTWPHPRPGPPPL--MAPWPWG-------978
KCNH4CPQL-----RP-----PCLSPCASRPPPSL>Q<DTTLAEVH-CPASV--GTMETG--------968
KCNH5EVKH-----ELKEDIQLLSCRMTALEKQVA>E<ILKILSEKSVPQ------------------949
KCNH6EQEQ-----PEGLWP-PLASPLHPLEVQGL>I<CG----------------------------960
KCNH7SIKT-----DRSFSPSSQCPEFLDLEKSKL>K<SKESLSSGVHLNTA--SEDNLTSL------1143
KCNH8CLHL-----QTGGAAYTQAQLCSSNITSDI>W<SVDPSSVGSSPQRT--GAHEQNPADSELYH987
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1EGPA-----EPEEHSVRIC----------->-<------------------------------1226
CNGB3VLPR-----GTSRQSLIIS----------->-<------------------------------787
HCN1RST--------------VP-QRVTLFRQMS>S<GAIP------PNRGVPPAPP----------861
HCN2ST-------------PRLG-P--------->-<-------TP-AARAAAPSPD----------862
HCN3SE-------------R-LP-PSGLL----->-<-AKP------PRTAQPPRPP----------758
HCN4GGLG-----PPGRPYGAIPGQHVTLPRKTS>S<GSLPPPLSLFGARATSSGGP----------1178
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1116Vc.3347C>T Inherited ArrhythmiaLQTSrs199473032SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation. 2005 112(9):1251-8. 16116052
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