Paralogue Annotation for KCNH2 residue 81

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 81
Reference Amino Acid: Q - Glutamine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 81

No paralogue variants have been mapped to residue 81 for KCNH2.



KCNH2LCGYSRAEVMQRPCTCDFLHGPRTQRRAAA>Q<-IAQ--------------------------84
KCNH1LSGYHRAEVMQKSSTCSFMYGELTDKDTIE>K<-VRQ--------------------------85
KCNH3LTGFSRAEVMQRGCACSFLYGPDTSELVRQ>Q<-IRK--------------------------85
KCNH4LTGYGRTEVMQKTCSCRFLYGPETSEPALQ>R<-LHK--------------------------85
KCNH5LSGYHRADVMQKSSTCSFMYGELTDKKTIE>K<-VRQ--------------------------83
KCNH6LFGYSRVEVMQQPCTCDFLTGPNTPSSAVS>R<-LAQ--------------------------84
KCNH7MTGFSRPDVMQKPCTCDFLHGPETKRHDIA>Q<-IAQ--------------------------84
KCNH8LAGFARTEVMQKSCSCKFLFGVETNEQLML>Q<-IEK--------------------------85
CNGA1------------------------------>G<-ACS--------------------------40
CNGA2-----PPA-----------IKANGK-DDHR>T<-SSR--------------------------37
CNGA3-------------------RDLNRA-EN-->G<-LSR--------------------------34
CNGA4------------------------------>-<------------------------------
CNGB1------------DPAQILGHGSTGDTGCTD>E<-PNE--------------------------145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<----------------------------GA11
HCN4G-AGGRQDPSRRSIRLRPLPSPSPSAAAGG>T<ESRSSALGAADSEGPARGAGKSSTNGDCRR95
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q81Hc.243G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Posthumous diagnosis of long QT syndrome from neonatal screening cards. Heart Rhythm. 2010 7(4):481-6. 20167303
p.Q81Ec.241C>G Putative BenignSIFT:
Polyphen: