Paralogue Annotation for KCNH2 residue 865

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 865
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 865

No paralogue variants have been mapped to residue 865 for KCNH2.

KCNH2	LLEVLDMYPEFSDHFWSSL--EIT-FNLRD>T<NM-IP-GSP---GSTELE--------GGFS	882
KCNH1	LQKVLEFYTAFSHSFSRNL--ILT-YNLRK>R<IV-FRKISD---VKREEE--------ERMK	722
KCNH3	LHDSLALYPEFAPRFSRGLRGELS-YNLGA>G<GG-SAEVDT-----SSLS------------	719
KCNH4	LAEVLRLYPEYGAAFRAGLPRDLT-FNLRQ>G<SD-TSGLSR-----FSRS--------PRLS	707
KCNH5	LLKVLDFYTAFANSFSRNL--TLT-CNLRK>R<II-FRKISD---VKKEEE--------ERLR	691
KCNH6	LLEVLDMYPAFAESFWSKL--EVT-FNLRD>A<AG-GL-------HSSPRQ--------APGS	731
KCNH7	LLEVLDMYPEFSDHFLTNL--ELT-FNLRH>E<SA-KA-DLLRSQSMNDSE--------GDNC	888
KCNH8	LFEVLDLYPEYAHKFVEDIQHDLT-YNLRE>G<HE-SDVISR-----LSNK--------SMVS	692
CNGA1	LMEALTEYPDAKTMLEEKGKQILMKDGLLD>L<NI-ANAGSD---PKDLEE--------K---	626
CNGA2	LMEAVTEYPDAKKVLEERGREILMKEGLLD>E<NE-VATS-M---EVDVQE--------K---	600
CNGA3	LMEALTEYPEAKKALEEKGRQILMKDNLID>E<EL-ARAGAD---PKDLEE--------K---	629
CNGA4	LREVLSEYPQAQTIMEEKGREILLKMNKLD>V<NA-EAAEIA---LQEATE--------SR--	496
CNGB1	LNEILVHYPESQKLLRKKARRMLRSNNKPK>-<-----EE-K-----SVLILPPRAGTPKL--	1108
CNGB3	LQEILVHYPDSERILMKKARVLLKQKAKTA>-<EATPPRK-D-----LALLFPPKEETPKL--	675
HCN1	FNEVLEEYPMMRRAFETVAIDRLDRIGKKN>S<IL-LQKFQ------KDLNT-------GVFN	615
HCN2	FNEVLEEYPMMRRAFETVAIDRLDRIGKKN>S<IL-LHKVQ------HDLNS-------GVFN	684
HCN3	FNAVLEEFPMMRRAFETVAMDRLLRIGKKN>S<IL-QRKRS------EPSPG-----------	564
HCN4	FNEVLEEYPMMRRAFETVALDRLDRIGKKN>S<IL-LHKVQ------HDLNS-------GVFN	735
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T865S	c.2594C>G	Putative Benign			SIFT: Polyphen:
p.T865I	c.2594C>T	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661