Paralogue Annotation for KCNH2 residue 864

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 864
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 864

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGB3	A653T	Cone-rod dystrophy	Low	3	23776498

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	DLLEVLDMYPEFSDHFWSSL--EIT-FNLR>D<TNM-IP-GSP---GSTELE--------GGF	881
KCNH1	ALQKVLEFYTAFSHSFSRNL--ILT-YNLR>K<RIV-FRKISD---VKREEE--------ERM	721
KCNH3	GLHDSLALYPEFAPRFSRGLRGELS-YNLG>A<GGG-SAEVDT-----SSLS-----------	719
KCNH4	GLAEVLRLYPEYGAAFRAGLPRDLT-FNLR>Q<GSD-TSGLSR-----FSRS--------PRL	706
KCNH5	ALLKVLDFYTAFANSFSRNL--TLT-CNLR>K<RII-FRKISD---VKKEEE--------ERL	690
KCNH6	DLLEVLDMYPAFAESFWSKL--EVT-FNLR>D<AAG-GL-------HSSPRQ--------APG	730
KCNH7	DLLEVLDMYPEFSDHFLTNL--ELT-FNLR>H<ESA-KA-DLLRSQSMNDSE--------GDN	887
KCNH8	GLFEVLDLYPEYAHKFVEDIQHDLT-YNLR>E<GHE-SDVISR-----LSNK--------SMV	691
CNGA1	DLMEALTEYPDAKTMLEEKGKQILMKDGLL>D<LNI-ANAGSD---PKDLEE--------K--	626
CNGA2	DLMEAVTEYPDAKKVLEERGREILMKEGLL>D<ENE-VATS-M---EVDVQE--------K--	600
CNGA3	DLMEALTEYPEAKKALEEKGRQILMKDNLI>D<EEL-ARAGAD---PKDLEE--------K--	629
CNGA4	DLREVLSEYPQAQTIMEEKGREILLKMNKL>D<VNA-EAAEIA---LQEATE--------SR-	496
CNGB1	DLNEILVHYPESQKLLRKKARRMLRSNNKP>K<------EE-K-----SVLILPPRAGTPKL-	1108
CNGB3	TLQEILVHYPDSERILMKKARVLLKQKAKT>A<-EATPPRK-D-----LALLFPPKEETPKL-	675
HCN1	NFNEVLEEYPMMRRAFETVAIDRLDRIGKK>N<SIL-LQKFQ------KDLNT-------GVF	614
HCN2	NFNEVLEEYPMMRRAFETVAIDRLDRIGKK>N<SIL-LHKVQ------HDLNS-------GVF	683
HCN3	HFNAVLEEFPMMRRAFETVAMDRLLRIGKK>N<SIL-QRKRS------EPSPG----------	564
HCN4	NFNEVLEEYPMMRRAFETVALDRLDRIGKK>N<SIL-LHKVQ------HDLNS-------GVF	734
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D864G	c.2591A>G	Inherited Arrhythmia	LQTS	rs199473008	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041