Paralogue Annotation for KCNH2 residue 82

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 82
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 82

No paralogue variants have been mapped to residue 82 for KCNH2.



KCNH2GYSRAEVMQRPCTCDFLHGPRTQRRAAAQ->I<AQ----------------------------84
KCNH1GYHRAEVMQKSSTCSFMYGELTDKDTIEK->V<RQ----------------------------85
KCNH3GFSRAEVMQRGCACSFLYGPDTSELVRQQ->I<RK----------------------------85
KCNH4GYGRTEVMQKTCSCRFLYGPETSEPALQR->L<HK----------------------------85
KCNH5GYHRADVMQKSSTCSFMYGELTDKKTIEK->V<RQ----------------------------83
KCNH6GYSRVEVMQQPCTCDFLTGPNTPSSAVSR->L<AQ----------------------------84
KCNH7GFSRPDVMQKPCTCDFLHGPETKRHDIAQ->I<AQ----------------------------84
KCNH8GFARTEVMQKSCSCKFLFGVETNEQLMLQ->I<EK----------------------------85
CNGA1----------------------------G->A<CS----------------------------40
CNGA2---PPA-----------IKANGK-DDHRT->S<SR----------------------------37
CNGA3-----------------RDLNRA-EN--G->L<SR----------------------------34
CNGA4------------------------------>-<------------------------------
CNGB1----------DPAQILGHGSTGDTGCTDE->P<NE----------------------------145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<----------------------------SS11
HCN2------------------------------>-<----------------------------SP14
HCN3------------------------------>-<--------------------------GASE13
HCN4AGGRQDPSRRSIRLRPLPSPSPSAAAGGTE>S<RSSALGAADSEGPARGAGKSSTNGDCRRFR97
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I82Tc.245T>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. Epilepsia. 2013 54(8):e112-6. doi: 10.1111/epi.12259. 23899126