Paralogue Annotation for KCNH2 residue 480

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 480
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 480

No paralogue variants have been mapped to residue 480 for KCNH2.



KCNH2LAVVDLIVDIMFIVDI-LINFRTTYVN-AN>E<EVVSHPGRIAVHYFKGW-FLIDMVAAIPFD509
KCNH1WLVVDSIVDVIFLVDI-VLNFHTTFVG-PA>G<EVISDPKLIRMNYLKTW-FVIDLLSCLPYD307
KCNH3PSVCDLAVEVLFILDI-VLNFRTTFVS-KS>G<QVVFAPKSICLHYVTTW-FLLDVIAALPFD318
KCNH4TLVSDIAVEMLFILDI-ILNFRTTYVS-QS>G<QVISAPRSIGLHYLATW-FFIDLIAALPFD320
KCNH5WLVLDSVVDVIFLVDI-VLNFHTTFVG-PG>G<EVISDPKLIRMNYLKTW-FVIDLLSCLPYD304
KCNH6LTVVDLIVDIMFVVDI-VINFRTTYVN-TN>D<EVVSHPRRIAVHYFKGW-FLIDMVAAIPFD357
KCNH7LNVVDLIVDIMFIIDI-LINFRTTYVN-QN>E<EVVSDPAKIAIHYFKGW-FLIDMVAAIPFD508
KCNH8TTVSDIAVEILFIIDI-ILNFRTTYVS-KS>G<QVIFEARSICIHYVTTW-FIIDLIAALPFD314
CNGA1WLILDYVSDIVYLIDM-FVRTRTGYLE--Q>G<LLVKEELKLINKYKSNLQFKLDVLSLIPTD257
CNGA2WLVLDYVSDVVYIADL-FIRLRTGFLE--Q>G<LLVKDTKKLRDNYIHTLQFKLDVASIIPTD232
CNGA3WLVLDYSADVLYVLDV-LVRARTGFLE--Q>G<LMVSDTNRLWQHYKTTTQFKLDVLSLVPTD260
CNGA4WLVLDYTSDLLYLLDM-VVRFHTGFLE--Q>G<ILVVDKGRISSRYVRTWSFFLDLASLMPTD126
CNGB1WLLMDYLCDLIYFLDITVFQTRLQFVR--G>G<DIITDKKDMRNNYLKSRRFKMDLLSLLPLD749
CNGB3WLIADIICDIIYLYDMLFIQPRLQFVR--G>G<DIIVDSNELRKHYRTSTKFQLDVASIIPFD311
HCN1WIIFNVASDTVFLLDL-IMNFRTGTVNEDS>S<EIILDPKVIKMNYLKSW-FVVDFISSIPVD233
HCN2WIVFNVVSDTFFLMDL-VLNFRTGIVIEDN>T<EIILDPEKIKKKYLRTW-FVVDFVSSIPVD302
HCN3WIVFNVLSDTFFLLDL-VLNFRTGIVVEEG>A<EILLAPRAIRTRYLRTW-FLVDLISSIPVD184
HCN4WIVFNVVSDTFFLIDL-VLNFRTGIVVEDN>T<EIILDPQRIKMKYLKSW-FMVDFISSIPVD353
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E480Kc.1438G>A Putative BenignSIFT: deleterious
Polyphen: possibly damaging
p.E480Vc.1439A>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715