Paralogue Annotation for KCNH2 residue 477

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 477
Reference Amino Acid: N - Asparagine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 477

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3E228KAchromatopsiaMedium5 18521937, 20079539, 22995991

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.



KCNH2ACQPLAVVDLIVDIMFIVDI-LINFRTTYV>N<-ANEEVVSHPGRIAVHYFKGW-FLIDMVAA505
KCNH1-NVAWLVVDSIVDVIFLVDI-VLNFHTTFV>G<-PAGEVISDPKLIRMNYLKTW-FVIDLLSC303
KCNH3ARGPPSVCDLAVEVLFILDI-VLNFRTTFV>S<-KSGQVVFAPKSICLHYVTTW-FLLDVIAA314
KCNH4TSRHTLVSDIAVEMLFILDI-ILNFRTTYV>S<-QSGQVISAPRSIGLHYLATW-FFIDLIAA316
KCNH5-NIAWLVLDSVVDVIFLVDI-VLNFHTTFV>G<-PGGEVISDPKLIRMNYLKTW-FVIDLLSC300
KCNH6TCSPLTVVDLIVDIMFVVDI-VINFRTTYV>N<-TNDEVVSHPRRIAVHYFKGW-FLIDMVAA353
KCNH7SCSPLNVVDLIVDIMFIIDI-LINFRTTYV>N<-QNEEVVSDPAKIAIHYFKGW-FLIDMVAA504
KCNH8TTRSTTVSDIAVEILFIIDI-ILNFRTTYV>S<-KSGQVIFEARSICIHYVTTW-FIIDLIAA310
CNGA1YLEYWLILDYVSDIVYLIDM-FVRTRTGYL>E<--QGLLVKEELKLINKYKSNLQFKLDVLSL253
CNGA2YYLVWLVLDYVSDVVYIADL-FIRLRTGFL>E<--QGLLVKDTKKLRDNYIHTLQFKLDVASI228
CNGA3YLMLWLVLDYSADVLYVLDV-LVRARTGFL>E<--QGLMVSDTNRLWQHYKTTTQFKLDVLSL256
CNGA4YLVAWLVLDYTSDLLYLLDM-VVRFHTGFL>E<--QGILVVDKGRISSRYVRTWSFFLDLASL122
CNGB1NIHHWLLMDYLCDLIYFLDITVFQTRLQFV>R<--GGDIITDKKDMRNNYLKSRRFKMDLLSL745
CNGB3NIHYWLIADIICDIIYLYDMLFIQPRLQFV>R<--GGDIIVDSNELRKHYRTSTKFQLDVASI307
HCN1-TTPWIIFNVASDTVFLLDL-IMNFRTGTV>N<EDSSEIILDPKVIKMNYLKSW-FVVDFISS229
HCN2-TAPWIVFNVVSDTFFLMDL-VLNFRTGIV>I<EDNTEIILDPEKIKKKYLRTW-FVVDFVSS298
HCN3-SPPWIVFNVLSDTFFLLDL-VLNFRTGIV>V<EEGAEILLAPRAIRTRYLRTW-FLVDLISS180
HCN4-TTPWIVFNVVSDTFFLIDL-VLNFRTGIV>V<EDNTEIILDPQRIKMKYLKSW-FMVDFISS349
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 477 for KCNH2.