Paralogue Annotation for KCNH2 residue 1115

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1115
Reference Amino Acid: M - Methionine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1115

No paralogue variants have been mapped to residue 1115 for KCNH2.



KCNH2TSPLL-----PVSPLP-TLTLDSLSQVSQF>M<ACEELPPGAPELPQ----------------1129
KCNH1LEVRH-----ELKEDIKALNAKMTNIEKQL>S<EILRILTSRRS-------------------963
KCNH3PCPASTSGLLQPLCVDTGASSYCLQPPAGS>V<LSGTWPHPRPGPPPL--MAPWPWG------978
KCNH4PCPQL-----RP-----PCLSPCASRPPPS>L<QDTTLAEVH-CPASV--GTMETG-------968
KCNH5QEVKH-----ELKEDIQLLSCRMTALEKQV>A<EILKILSEKSVPQ-----------------949
KCNH6SEQEQ-----PEGLWP-PLASPLHPLEVQG>L<ICG---------------------------960
KCNH7ASIKT-----DRSFSPSSQCPEFLDLEKSK>L<KSKESLSSGVHLNTA--SEDNLTSL-----1143
KCNH8PCLHL-----QTGGAAYTQAQLCSSNITSD>I<WSVDPSSVGSSPQRT--GAHEQNPADSELY986
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1EEGPA-----EPEEHSVRIC---------->-<------------------------------1226
CNGB3TVLPR-----GTSRQSLIIS---------->-<------------------------------787
HCN1-RST--------------VP-QRVTLFRQM>S<SGAIP------PNRGVPPAPP---------861
HCN2-ST-------------PRLG-P-------->-<--------TP-AARAAAPSPD---------862
HCN3-SE-------------R-LP-PSGLL---->-<--AKP------PRTAQPPRPP---------758
HCN4-GGLG-----PPGRPYGAIPGQHVTLPRKT>S<SGSLPPPLSLFGARATSSGGP---------1178
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M1115Vc.3343A>G Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085