Paralogue Annotation for KCNH2 residue 289

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 289
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 289

No paralogue variants have been mapped to residue 289 for KCNH2.



KCNH2--CSL----ARTRSRESCASVRRASSADDI>E<AM--------RAGVLPPPPRHASTGAMHPL311
KCNH1------------------------------>-<------------------------------
KCNH3---RY----GRAR----------------->-<------------------------------159
KCNH4---SL----GRRG----------------->-<------------------------------160
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7--SQL----SHSRSRESLCSIRRASSVHDI>E<GFGVHPKNIFRDRHASEDNGRNVKGPFNHI310
KCNH8---VK----GRSR----------------->-<------------------------------155
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1GTHRKKLPSEDDEA-E---------ELKAL>S<PAESPVVAWSDPTTPKDTDGQDRAASTAST559
CNGB3-------------------------EQKEM>D<PGKE------GPNSPQNK------PPAAPV123
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E289Kc.865G>A Inherited ArrhythmiaLQTSrs199472880SIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833