Paralogue Annotation for KCNH2 residue 472

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 472
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 472

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3R223GAchromatopsiaHigh9 17265047
CNGA3R223WColour-blindness, totalHigh9 11536077, 23972307, 25283059, 26992781
CNGA3R223QAchromatopsiaHigh9 24504161, 25283059, 26992781

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.



KCNH2TECGYACQPLAVVDLIVDIMFIVDI-LINF>R<TTYVN-ANEEVVSHPGRIAVHYFKGW-FLI500
KCNH1------NVAWLVVDSIVDVIFLVDI-VLNF>H<TTFVG-PAGEVISDPKLIRMNYLKTW-FVI298
KCNH3--PSAARGPPSVCDLAVEVLFILDI-VLNF>R<TTFVS-KSGQVVFAPKSICLHYVTTW-FLL309
KCNH4--TPITSRHTLVSDIAVEMLFILDI-ILNF>R<TTYVS-QSGQVISAPRSIGLHYLATW-FFI311
KCNH5------NIAWLVLDSVVDVIFLVDI-VLNF>H<TTFVG-PGGEVISDPKLIRMNYLKTW-FVI295
KCNH6GACSYTCSPLTVVDLIVDIMFVVDI-VINF>R<TTYVN-TNDEVVSHPRRIAVHYFKGW-FLI348
KCNH7RECGYSCSPLNVVDLIVDIMFIIDI-LINF>R<TTYVN-QNEEVVSDPAKIAIHYFKGW-FLI499
KCNH8--LS-TTRSTTVSDIAVEILFIIDI-ILNF>R<TTYVS-KSGQVIFEARSICIHYVTTW-FII305
CNGA1----DYLEYWLILDYVSDIVYLIDM-FVRT>R<TGYLE--QGLLVKEELKLINKYKSNLQFKL248
CNGA2----GYYLVWLVLDYVSDVVYIADL-FIRL>R<TGFLE--QGLLVKDTKKLRDNYIHTLQFKL223
CNGA3----EYLMLWLVLDYSADVLYVLDV-LVRA>R<TGFLE--QGLMVSDTNRLWQHYKTTTQFKL251
CNGA4----GYLVAWLVLDYTSDLLYLLDM-VVRF>H<TGFLE--QGILVVDKGRISSRYVRTWSFFL117
CNGB1----DNIHHWLLMDYLCDLIYFLDITVFQT>R<LQFVR--GGDIITDKKDMRNNYLKSRRFKM740
CNGB3----DNIHYWLIADIICDIIYLYDMLFIQP>R<LQFVR--GGDIIVDSNELRKHYRTSTKFQL302
HCN1------TTPWIIFNVASDTVFLLDL-IMNF>R<TGTVNEDSSEIILDPKVIKMNYLKSW-FVV224
HCN2------TAPWIVFNVVSDTFFLMDL-VLNF>R<TGIVIEDNTEIILDPEKIKKKYLRTW-FVV293
HCN3------SPPWIVFNVLSDTFFLLDL-VLNF>R<TGIVVEEGAEILLAPRAIRTRYLRTW-FLV175
HCN4------TTPWIVFNVVSDTFFLIDL-VLNF>R<TGIVVEDNTEIILDPQRIKMKYLKSW-FMV344
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R472Cc.1414C>T Putative BenignSIFT:
Polyphen:
p.Arg472Proc.1415G>C UnknownSIFT:
Polyphen: