Paralogue Annotation for KCNH2 residue 497

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 497
Reference Amino Acid: W - Tryptophan
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 497

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3T247MCone dystrophyMedium7 24903488

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.



KCNH2LINFRTTYVN-ANEEVVSHPGRIAVHYFKG>W<-FLIDMVAAIPFDLLIFGSGSEE-------519
KCNH1VLNFHTTFVG-PAGEVISDPKLIRMNYLKT>W<-FVIDLLSCLPYDVINAFENVDEVSAFMGD324
KCNH3VLNFRTTFVS-KSGQVVFAPKSICLHYVTT>W<-FLLDVIAALPFDLLHAF-KVN--------326
KCNH4ILNFRTTYVS-QSGQVISAPRSIGLHYLAT>W<-FFIDLIAALPFDLLYIF-NIT--------328
KCNH5VLNFHTTFVG-PGGEVISDPKLIRMNYLKT>W<-FVIDLLSCLPYDIINAFENVDEG------315
KCNH6VINFRTTYVN-TNDEVVSHPRRIAVHYFKG>W<-FLIDMVAAIPFDLLIFRTGSDE-------367
KCNH7LINFRTTYVN-QNEEVVSDPAKIAIHYFKG>W<-FLIDMVAAIPFDLLIFGSGSDE-------518
KCNH8ILNFRTTYVS-KSGQVIFEARSICIHYVTT>W<-FIIDLIAALPFDLLYAF-NVT--------322
CNGA1FVRTRTGYLE--QGLLVKEELKLINKYKSN>L<QFKLDVLSLIPTDLLYFKLGWNY-------267
CNGA2FIRLRTGFLE--QGLLVKDTKKLRDNYIHT>L<QFKLDVASIIPTDLIYFAVDIHS-------242
CNGA3LVRARTGFLE--QGLMVSDTNRLWQHYKTT>T<QFKLDVLSLVPTDLAYLKVGTNY-------270
CNGA4VVRFHTGFLE--QGILVVDKGRISSRYVRT>W<SFFLDLASLMPTDVVYVRLGPHT-------136
CNGB1VFQTRLQFVR--GGDIITDKKDMRNNYLKS>R<RFKMDLLSLLPLDFLYLKVGVN--------758
CNGB3FIQPRLQFVR--GGDIIVDSNELRKHYRTS>T<KFQLDVASIIPFDICYLFFGFN--------320
HCN1IMNFRTGTVNEDSSEIILDPKVIKMNYLKS>W<-FVVDFISSIPVDYIFLIVEK--GMDSEVY248
HCN2VLNFRTGIVIEDNTEIILDPEKIKKKYLRT>W<-FVVDFVSSIPVDYIFLIVEK--GIDSEVY317
HCN3VLNFRTGIVVEEGAEILLAPRAIRTRYLRT>W<-FLVDLISSIPVDYIFLVVELEPRLDAEVY201
HCN4VLNFRTGIVVEDNTEIILDPQRIKMKYLKS>W<-FMVDFISSIPVDYIFLIVET--RIDSEVY368
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W497Lc.1490G>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531