Paralogue Annotation for KCNH2 residue 483

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 483
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 483

No paralogue variants have been mapped to residue 483 for KCNH2.



KCNH2VDLIVDIMFIVDI-LINFRTTYVN-ANEEV>V<SHPGRIAVHYFKGW-FLIDMVAAIPFDLLI512
KCNH1VDSIVDVIFLVDI-VLNFHTTFVG-PAGEV>I<SDPKLIRMNYLKTW-FVIDLLSCLPYDVIN310
KCNH3CDLAVEVLFILDI-VLNFRTTFVS-KSGQV>V<FAPKSICLHYVTTW-FLLDVIAALPFDLLH321
KCNH4SDIAVEMLFILDI-ILNFRTTYVS-QSGQV>I<SAPRSIGLHYLATW-FFIDLIAALPFDLLY323
KCNH5LDSVVDVIFLVDI-VLNFHTTFVG-PGGEV>I<SDPKLIRMNYLKTW-FVIDLLSCLPYDIIN307
KCNH6VDLIVDIMFVVDI-VINFRTTYVN-TNDEV>V<SHPRRIAVHYFKGW-FLIDMVAAIPFDLLI360
KCNH7VDLIVDIMFIIDI-LINFRTTYVN-QNEEV>V<SDPAKIAIHYFKGW-FLIDMVAAIPFDLLI511
KCNH8SDIAVEILFIIDI-ILNFRTTYVS-KSGQV>I<FEARSICIHYVTTW-FIIDLIAALPFDLLY317
CNGA1LDYVSDIVYLIDM-FVRTRTGYLE--QGLL>V<KEELKLINKYKSNLQFKLDVLSLIPTDLLY260
CNGA2LDYVSDVVYIADL-FIRLRTGFLE--QGLL>V<KDTKKLRDNYIHTLQFKLDVASIIPTDLIY235
CNGA3LDYSADVLYVLDV-LVRARTGFLE--QGLM>V<SDTNRLWQHYKTTTQFKLDVLSLVPTDLAY263
CNGA4LDYTSDLLYLLDM-VVRFHTGFLE--QGIL>V<VDKGRISSRYVRTWSFFLDLASLMPTDVVY129
CNGB1MDYLCDLIYFLDITVFQTRLQFVR--GGDI>I<TDKKDMRNNYLKSRRFKMDLLSLLPLDFLY752
CNGB3ADIICDIIYLYDMLFIQPRLQFVR--GGDI>I<VDSNELRKHYRTSTKFQLDVASIIPFDICY314
HCN1FNVASDTVFLLDL-IMNFRTGTVNEDSSEI>I<LDPKVIKMNYLKSW-FVVDFISSIPVDYIF236
HCN2FNVVSDTFFLMDL-VLNFRTGIVIEDNTEI>I<LDPEKIKKKYLRTW-FVVDFVSSIPVDYIF305
HCN3FNVLSDTFFLLDL-VLNFRTGIVVEEGAEI>L<LAPRAIRTRYLRTW-FLVDLISSIPVDYIF187
HCN4FNVVSDTFFLIDL-VLNFRTGIVVEDNTEI>I<LDPQRIKMKYLKSW-FMVDFISSIPVDYIF356
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V483Ic.1447G>A Putative BenignSIFT:
Polyphen: