Paralogue Annotation for KCNH2 residue 498

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 498
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 498

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3F249SAchromatopsiaHigh9 15712225

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.



KCNH2NFRTTYVN-ANEEVVSHPGRIAVHYFKGW->F<LIDMVAAIPFDLLIFGSGSEE---------519
KCNH1NFHTTFVG-PAGEVISDPKLIRMNYLKTW->F<VIDLLSCLPYDVINAFENVDEVSAFMGDPG326
KCNH3NFRTTFVS-KSGQVVFAPKSICLHYVTTW->F<LLDVIAALPFDLLHAF-KVN----------326
KCNH4NFRTTYVS-QSGQVISAPRSIGLHYLATW->F<FIDLIAALPFDLLYIF-NIT----------328
KCNH5NFHTTFVG-PGGEVISDPKLIRMNYLKTW->F<VIDLLSCLPYDIINAFENVDEG--------315
KCNH6NFRTTYVN-TNDEVVSHPRRIAVHYFKGW->F<LIDMVAAIPFDLLIFRTGSDE---------367
KCNH7NFRTTYVN-QNEEVVSDPAKIAIHYFKGW->F<LIDMVAAIPFDLLIFGSGSDE---------518
KCNH8NFRTTYVS-KSGQVIFEARSICIHYVTTW->F<IIDLIAALPFDLLYAF-NVT----------322
CNGA1RTRTGYLE--QGLLVKEELKLINKYKSNLQ>F<KLDVLSLIPTDLLYFKLGWNY---------267
CNGA2RLRTGFLE--QGLLVKDTKKLRDNYIHTLQ>F<KLDVASIIPTDLIYFAVDIHS---------242
CNGA3RARTGFLE--QGLMVSDTNRLWQHYKTTTQ>F<KLDVLSLVPTDLAYLKVGTNY---------270
CNGA4RFHTGFLE--QGILVVDKGRISSRYVRTWS>F<FLDLASLMPTDVVYVRLGPHT---------136
CNGB1QTRLQFVR--GGDIITDKKDMRNNYLKSRR>F<KMDLLSLLPLDFLYLKVGVN----------758
CNGB3QPRLQFVR--GGDIIVDSNELRKHYRTSTK>F<QLDVASIIPFDICYLFFGFN----------320
HCN1NFRTGTVNEDSSEIILDPKVIKMNYLKSW->F<VVDFISSIPVDYIFLIVEK--GMDSEVYKT250
HCN2NFRTGIVIEDNTEIILDPEKIKKKYLRTW->F<VVDFVSSIPVDYIFLIVEK--GIDSEVYKT319
HCN3NFRTGIVVEEGAEILLAPRAIRTRYLRTW->F<LVDLISSIPVDYIFLVVELEPRLDAEVYKT203
HCN4NFRTGIVVEDNTEIILDPQRIKMKYLKSW->F<MVDFISSIPVDYIFLIVET--RIDSEVYKT370
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 498 for KCNH2.