Paralogue Annotation for KCNH2 residue 297

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 297
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 297

No paralogue variants have been mapped to residue 297 for KCNH2.



KCNH2SCASVRRASSADDIEAM--------RAGVL>P<PPPRHASTGAMHPLRSGLLNSTSDSDLVRY327
KCNH1------------------------------>-<----------------------------KF151
KCNH3------------------------------>-<-----------------------------S160
KCNH4------------------------------>-<-----------------------------A161
KCNH5------------------------------>-<----------------------------KF149
KCNH6------------------------------>-<------------------------TGRGKY175
KCNH7SLCSIRRASSVHDIEGFGVHPKNIFRDRHA>S<EDNGRNVKGPFNHIKSSLLGSTSDSNLNKY326
KCNH8------------------------------>-<-----------------------------A156
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1---------ELKALSPAESPVVAWSDPTTP>K<DTDGQDRAASTASTNSAIINDRLQELVKLF575
CNGB3---------EQKEMDPGKE------GPNSP>Q<NK------PPAAPVINEYADAQLHNLVKRM139
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P297Sc.889C>T Inherited ArrhythmiaLQTSrs199472882SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429
Other Cardiac Phenotype The Prevalence of Mutations in KCNQ1, KCNH2, and SCN5A in an Unselected National Cohort of Young Sudden Unexplained Death Cases. J Cardiovasc Electrophysiol. 2012 23(10):1092-1098. doi: 10.1111/j.1540-8167.2012.02 22882672