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

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	L626R	Cone-rod dystrophy	Low	2	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.

KCNH2	SSL--EIT-FNLRDTNM-IP-GSP---GST>E<LE--------GGFSRQRKRKLSFRRRTDKD	898
KCNH1	RNL--ILT-YNLRKRIV-FRKISD---VKR>E<EE--------ERMKRKNEAPLILPPDHPVR	738
KCNH3	RGLRGELS-YNLGAGGG-SAEVDT-----S>S<LS------------G-------D--NTLMS	726
KCNH4	AGLPRDLT-FNLRQGSD-TSGLSR-----F>S<RS--------PRLSQPRSESLGSSSDKTLP	723
KCNH5	RNL--TLT-CNLRKRII-FRKISD---VKK>E<EE--------ERLRQKNEVTLSIPVDHPVR	707
KCNH6	SKL--EVT-FNLRDAAG-GL-------HSS>P<RQ--------APGSQDHQGFFLSDNQSGSP	747
KCNH7	TNL--ELT-FNLRHESA-KA-DLLRSQSMN>D<SE--------GDNCKLRRRKLSFESEGEKE	904
KCNH8	EDIQHDLT-YNLREGHE-SDVISR-----L>S<NK--------SMVSQSEPKGNGN-INKRLP	707
CNGA1	EKGKQILMKDGLLDLNI-ANAGSD---PKD>L<EE--------K---VTRME--GSVDLLQTR	640
CNGA2	ERGREILMKEGLLDENE-VATS-M---EVD>V<QE--------K---LGQLE--TNMETLYTR	614
CNGA3	EKGRQILMKDNLIDEEL-ARAGAD---PKD>L<EE--------K---VEQLG--SSLDTLQTR	643
CNGA4	EKGREILLKMNKLDVNA-EAAEIA---LQE>A<TE--------SR--LRGLD--QQLDDLQTK	510
CNGB1	KKARRMLRSNNKPK------EE-K-----S>V<LILPPRAGTPKL--FNAA--LAMTGKMGGK	1122
CNGB3	KKARVLLKQKAKTA-EATPPRK-D-----L>A<LLFPPKEETPKL--FKTL--LGGTGKASL-	688
HCN1	TVAIDRLDRIGKKNSIL-LQKFQ------K>D<LNT-------GVFNN-Q---ENEILKQIVK	627
HCN2	TVAIDRLDRIGKKNSIL-LHKVQ------H>D<LNS-------GVFNN-Q---ENAIIQEIVK	696
HCN3	TVAMDRLLRIGKKNSIL-QRKRS------E>P<SPG-----------S-S---GGIMEQHLVQ	576
HCN4	TVALDRLDRIGKKNSIL-LHKVQ------H>D<LNS-------GVFNY-Q---ENEIIQQIVQ	747
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

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