Paralogue Annotation for KCNH2 residue 476

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 476
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 476

No paralogue variants have been mapped to residue 476 for KCNH2.



KCNH2YACQPLAVVDLIVDIMFIVDI-LINFRTTY>V<N-ANEEVVSHPGRIAVHYFKGW-FLIDMVA504
KCNH1--NVAWLVVDSIVDVIFLVDI-VLNFHTTF>V<G-PAGEVISDPKLIRMNYLKTW-FVIDLLS302
KCNH3AARGPPSVCDLAVEVLFILDI-VLNFRTTF>V<S-KSGQVVFAPKSICLHYVTTW-FLLDVIA313
KCNH4ITSRHTLVSDIAVEMLFILDI-ILNFRTTY>V<S-QSGQVISAPRSIGLHYLATW-FFIDLIA315
KCNH5--NIAWLVLDSVVDVIFLVDI-VLNFHTTF>V<G-PGGEVISDPKLIRMNYLKTW-FVIDLLS299
KCNH6YTCSPLTVVDLIVDIMFVVDI-VINFRTTY>V<N-TNDEVVSHPRRIAVHYFKGW-FLIDMVA352
KCNH7YSCSPLNVVDLIVDIMFIIDI-LINFRTTY>V<N-QNEEVVSDPAKIAIHYFKGW-FLIDMVA503
KCNH8-TTRSTTVSDIAVEILFIIDI-ILNFRTTY>V<S-KSGQVIFEARSICIHYVTTW-FIIDLIA309
CNGA1DYLEYWLILDYVSDIVYLIDM-FVRTRTGY>L<E--QGLLVKEELKLINKYKSNLQFKLDVLS252
CNGA2GYYLVWLVLDYVSDVVYIADL-FIRLRTGF>L<E--QGLLVKDTKKLRDNYIHTLQFKLDVAS227
CNGA3EYLMLWLVLDYSADVLYVLDV-LVRARTGF>L<E--QGLMVSDTNRLWQHYKTTTQFKLDVLS255
CNGA4GYLVAWLVLDYTSDLLYLLDM-VVRFHTGF>L<E--QGILVVDKGRISSRYVRTWSFFLDLAS121
CNGB1DNIHHWLLMDYLCDLIYFLDITVFQTRLQF>V<R--GGDIITDKKDMRNNYLKSRRFKMDLLS744
CNGB3DNIHYWLIADIICDIIYLYDMLFIQPRLQF>V<R--GGDIIVDSNELRKHYRTSTKFQLDVAS306
HCN1--TTPWIIFNVASDTVFLLDL-IMNFRTGT>V<NEDSSEIILDPKVIKMNYLKSW-FVVDFIS228
HCN2--TAPWIVFNVVSDTFFLMDL-VLNFRTGI>V<IEDNTEIILDPEKIKKKYLRTW-FVVDFVS297
HCN3--SPPWIVFNVLSDTFFLLDL-VLNFRTGI>V<VEEGAEILLAPRAIRTRYLRTW-FLVDLIS179
HCN4--TTPWIVFNVVSDTFFLIDL-VLNFRTGI>V<VEDNTEIILDPQRIKMKYLKSW-FMVDFIS348
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V476Ic.1426G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085