Paralogue Annotation for KCNH2 residue 876

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 876
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 876

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3L626RCone-rod dystrophyLow2 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.



KCNH2SSL--EIT-FNLRDTNM-IP-GSP---GST>E<LE--------GGFSRQRKRKLSFRRRTDKD898
KCNH1RNL--ILT-YNLRKRIV-FRKISD---VKR>E<EE--------ERMKRKNEAPLILPPDHPVR738
KCNH3RGLRGELS-YNLGAGGG-SAEVDT-----S>S<LS------------G-------D--NTLMS726
KCNH4AGLPRDLT-FNLRQGSD-TSGLSR-----F>S<RS--------PRLSQPRSESLGSSSDKTLP723
KCNH5RNL--TLT-CNLRKRII-FRKISD---VKK>E<EE--------ERLRQKNEVTLSIPVDHPVR707
KCNH6SKL--EVT-FNLRDAAG-GL-------HSS>P<RQ--------APGSQDHQGFFLSDNQSGSP747
KCNH7TNL--ELT-FNLRHESA-KA-DLLRSQSMN>D<SE--------GDNCKLRRRKLSFESEGEKE904
KCNH8EDIQHDLT-YNLREGHE-SDVISR-----L>S<NK--------SMVSQSEPKGNGN-INKRLP707
CNGA1EKGKQILMKDGLLDLNI-ANAGSD---PKD>L<EE--------K---VTRME--GSVDLLQTR640
CNGA2ERGREILMKEGLLDENE-VATS-M---EVD>V<QE--------K---LGQLE--TNMETLYTR614
CNGA3EKGRQILMKDNLIDEEL-ARAGAD---PKD>L<EE--------K---VEQLG--SSLDTLQTR643
CNGA4EKGREILLKMNKLDVNA-EAAEIA---LQE>A<TE--------SR--LRGLD--QQLDDLQTK510
CNGB1KKARRMLRSNNKPK------EE-K-----S>V<LILPPRAGTPKL--FNAA--LAMTGKMGGK1122
CNGB3KKARVLLKQKAKTA-EATPPRK-D-----L>A<LLFPPKEETPKL--FKTL--LGGTGKASL-688
HCN1TVAIDRLDRIGKKNSIL-LQKFQ------K>D<LNT-------GVFNN-Q---ENEILKQIVK627
HCN2TVAIDRLDRIGKKNSIL-LHKVQ------H>D<LNS-------GVFNN-Q---ENAIIQEIVK696
HCN3TVAMDRLLRIGKKNSIL-QRKRS------E>P<SPG-----------S-S---GGIMEQHLVQ576
HCN4TVALDRLDRIGKKNSIL-LHKVQ------H>D<LNS-------GVFNY-Q---ENEIIQQIVQ747
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 876 for KCNH2.