Paralogue Annotation for KCNH2 residue 475

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 475
Reference Amino Acid: Y - Tyrosine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 475

No paralogue variants have been mapped to residue 475 for KCNH2.



KCNH2GYACQPLAVVDLIVDIMFIVDI-LINFRTT>Y<VN-ANEEVVSHPGRIAVHYFKGW-FLIDMV503
KCNH1---NVAWLVVDSIVDVIFLVDI-VLNFHTT>F<VG-PAGEVISDPKLIRMNYLKTW-FVIDLL301
KCNH3SAARGPPSVCDLAVEVLFILDI-VLNFRTT>F<VS-KSGQVVFAPKSICLHYVTTW-FLLDVI312
KCNH4PITSRHTLVSDIAVEMLFILDI-ILNFRTT>Y<VS-QSGQVISAPRSIGLHYLATW-FFIDLI314
KCNH5---NIAWLVLDSVVDVIFLVDI-VLNFHTT>F<VG-PGGEVISDPKLIRMNYLKTW-FVIDLL298
KCNH6SYTCSPLTVVDLIVDIMFVVDI-VINFRTT>Y<VN-TNDEVVSHPRRIAVHYFKGW-FLIDMV351
KCNH7GYSCSPLNVVDLIVDIMFIIDI-LINFRTT>Y<VN-QNEEVVSDPAKIAIHYFKGW-FLIDMV502
KCNH8S-TTRSTTVSDIAVEILFIIDI-ILNFRTT>Y<VS-KSGQVIFEARSICIHYVTTW-FIIDLI308
CNGA1-DYLEYWLILDYVSDIVYLIDM-FVRTRTG>Y<LE--QGLLVKEELKLINKYKSNLQFKLDVL251
CNGA2-GYYLVWLVLDYVSDVVYIADL-FIRLRTG>F<LE--QGLLVKDTKKLRDNYIHTLQFKLDVA226
CNGA3-EYLMLWLVLDYSADVLYVLDV-LVRARTG>F<LE--QGLMVSDTNRLWQHYKTTTQFKLDVL254
CNGA4-GYLVAWLVLDYTSDLLYLLDM-VVRFHTG>F<LE--QGILVVDKGRISSRYVRTWSFFLDLA120
CNGB1-DNIHHWLLMDYLCDLIYFLDITVFQTRLQ>F<VR--GGDIITDKKDMRNNYLKSRRFKMDLL743
CNGB3-DNIHYWLIADIICDIIYLYDMLFIQPRLQ>F<VR--GGDIIVDSNELRKHYRTSTKFQLDVA305
HCN1---TTPWIIFNVASDTVFLLDL-IMNFRTG>T<VNEDSSEIILDPKVIKMNYLKSW-FVVDFI227
HCN2---TAPWIVFNVVSDTFFLMDL-VLNFRTG>I<VIEDNTEIILDPEKIKKKYLRTW-FVVDFV296
HCN3---SPPWIVFNVLSDTFFLLDL-VLNFRTG>I<VVEEGAEILLAPRAIRTRYLRTW-FLVDLI178
HCN4---TTPWIVFNVVSDTFFLIDL-VLNFRTG>I<VVEDNTEIILDPQRIKMKYLKSW-FMVDFI347
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y475Cc.1424A>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]. Zhonghua Nei Ke Za Zhi. 2006 45(6):463-6. 16831322
Inherited 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