Paralogue Annotation for KCNH2 residue 80

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 80
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 80

No paralogue variants have been mapped to residue 80 for KCNH2.



KCNH2ELCGYSRAEVMQRPCTCDFLHGPRTQRRAA>A<Q-IAQ-------------------------84
KCNH1KLSGYHRAEVMQKSSTCSFMYGELTDKDTI>E<K-VRQ-------------------------85
KCNH3DLTGFSRAEVMQRGCACSFLYGPDTSELVR>Q<Q-IRK-------------------------85
KCNH4ELTGYGRTEVMQKTCSCRFLYGPETSEPAL>Q<R-LHK-------------------------85
KCNH5KLSGYHRADVMQKSSTCSFMYGELTDKKTI>E<K-VRQ-------------------------83
KCNH6ELFGYSRVEVMQQPCTCDFLTGPNTPSSAV>S<R-LAQ-------------------------84
KCNH7EMTGFSRPDVMQKPCTCDFLHGPETKRHDI>A<Q-IAQ-------------------------84
KCNH8ELAGFARTEVMQKSCSCKFLFGVETNEQLM>L<Q-IEK-------------------------85
CNGA1------------------------------>-<G-ACS-------------------------40
CNGA2------PPA-----------IKANGK-DDH>R<T-SSR-------------------------37
CNGA3--------------------RDLNRA-EN->-<G-LSR-------------------------34
CNGA4------------------------------>-<------------------------------
CNGB1-------------DPAQILGHGSTGDTGCT>D<E-PNE-------------------------145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<-----------------------------G10
HCN4EG-AGGRQDPSRRSIRLRPLPSPSPSAAAG>G<TESRSSALGAADSEGPARGAGKSSTNGDCR94
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A80Vc.239C>T Other Cardiac Phenotypers199473493SIFT: deleterious
Polyphen: possibly damaging
ReportsOther Cardiac Phenotype Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008 29(13):1670-80. 18508782
p.A80Pc.238G>C Inherited ArrhythmiaLQTSrs199473037SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel. Ann Noninvasive Electrocardiol. 2011 16(2):213-8. doi: 10.1111/j.1542-474X.2011.00419.x 21496174