Paralogue Annotation for KCNH2 residue 1119

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1119
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1119

No paralogue variants have been mapped to residue 1119 for KCNH2.



KCNH2L-----PVSPLP-TLTLDSLSQVSQFMACE>E<LPPGAPELPQ--------------------1129
KCNH1H-----ELKEDIKALNAKMTNIEKQLSEIL>R<ILTSRRS-----------------------963
KCNH3STSGLLQPLCVDTGASSYCLQPPAGSVLSG>T<WPHPRPGPPPL--MAPWPWG-------PPA981
KCNH4L-----RP-----PCLSPCASRPPPSLQDT>T<LAEVH-CPASV--GTMETG--------TAL971
KCNH5H-----ELKEDIQLLSCRMTALEKQVAEIL>K<ILSEKSVPQ---------------------949
KCNH6Q-----PEGLWP-PLASPLHPLEVQGLICG>-<------------------------------960
KCNH7T-----DRSFSPSSQCPEFLDLEKSKLKSK>E<SLSSGVHLNTA--SEDNLTSL---------1143
KCNH8L-----QTGGAAYTQAQLCSSNITSDIWSV>D<PSSVGSSPQRT--GAHEQNPADSELYHSPS990
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1A-----EPEEHSVRIC-------------->-<------------------------------1226
CNGB3R-----GTSRQSLIIS-------------->-<------------------------------787
HCN1--------------VP-QRVTLFRQMSSGA>I<P------PNRGVPPAPP-------------861
HCN2------------PRLG-P------------>-<----TP-AARAAAPSPD-------------862
HCN3------------R-LP-PSGLL-------A>K<P------PRTAQPPRPP-------------758
HCN4G-----PPGRPYGAIPGQHVTLPRKTSSGS>L<PPPLSLFGARATSSGGP-------------1178
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1119Qc.3355G>C Putative Benignrs199473033SIFT: tolerated
Polyphen: benign
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300