Paralogue Annotation for KCNH2 residue 492

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 492
Reference Amino Acid: H - Histidine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 492

No paralogue variants have been mapped to residue 492 for KCNH2.



KCNH2IVDI-LINFRTTYVN-ANEEVVSHPGRIAV>H<YFKGW-FLIDMVAAIPFDLLIFGSGSEE--519
KCNH1LVDI-VLNFHTTFVG-PAGEVISDPKLIRM>N<YLKTW-FVIDLLSCLPYDVINAFENVDEVS319
KCNH3ILDI-VLNFRTTFVS-KSGQVVFAPKSICL>H<YVTTW-FLLDVIAALPFDLLHAF-KVN---326
KCNH4ILDI-ILNFRTTYVS-QSGQVISAPRSIGL>H<YLATW-FFIDLIAALPFDLLYIF-NIT---328
KCNH5LVDI-VLNFHTTFVG-PGGEVISDPKLIRM>N<YLKTW-FVIDLLSCLPYDIINAFENVDEG-315
KCNH6VVDI-VINFRTTYVN-TNDEVVSHPRRIAV>H<YFKGW-FLIDMVAAIPFDLLIFRTGSDE--367
KCNH7IIDI-LINFRTTYVN-QNEEVVSDPAKIAI>H<YFKGW-FLIDMVAAIPFDLLIFGSGSDE--518
KCNH8IIDI-ILNFRTTYVS-KSGQVIFEARSICI>H<YVTTW-FIIDLIAALPFDLLYAF-NVT---322
CNGA1LIDM-FVRTRTGYLE--QGLLVKEELKLIN>K<YKSNLQFKLDVLSLIPTDLLYFKLGWNY--267
CNGA2IADL-FIRLRTGFLE--QGLLVKDTKKLRD>N<YIHTLQFKLDVASIIPTDLIYFAVDIHS--242
CNGA3VLDV-LVRARTGFLE--QGLMVSDTNRLWQ>H<YKTTTQFKLDVLSLVPTDLAYLKVGTNY--270
CNGA4LLDM-VVRFHTGFLE--QGILVVDKGRISS>R<YVRTWSFFLDLASLMPTDVVYVRLGPHT--136
CNGB1FLDITVFQTRLQFVR--GGDIITDKKDMRN>N<YLKSRRFKMDLLSLLPLDFLYLKVGVN---758
CNGB3LYDMLFIQPRLQFVR--GGDIIVDSNELRK>H<YRTSTKFQLDVASIIPFDICYLFFGFN---320
HCN1LLDL-IMNFRTGTVNEDSSEIILDPKVIKM>N<YLKSW-FVVDFISSIPVDYIFLIVEK--GM243
HCN2LMDL-VLNFRTGIVIEDNTEIILDPEKIKK>K<YLRTW-FVVDFVSSIPVDYIFLIVEK--GI312
HCN3LLDL-VLNFRTGIVVEEGAEILLAPRAIRT>R<YLRTW-FLVDLISSIPVDYIFLVVELEPRL196
HCN4LIDL-VLNFRTGIVVEDNTEIILDPQRIKM>K<YLKSW-FMVDFISSIPVDYIFLIVET--RI363
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H492Yc.1474C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG. Circ J. 2003 67(6):495-8. 12808265
Inherited ArrhythmiaLQTS Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):511-23. 19843919