Paralogue Annotation for KCNH2 residue 606

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 606
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 606

No paralogue variants have been mapped to residue 606 for KCNH2.

KCNH2	-------G------------------LGGP>S<IKDKYVTALYFTFSSLTSVGFGNVSPNTNS	636
KCNH1	-----GSG-----------S--GK-WEGGP>S<KNSVYISSLYFTMTSLTSVGFGNIAPSTDI	475
KCNH3	PAGGNSSGQSDNCSSSSEANGTGLELLGGP>S<LRSAYITSLYFALSSLTSVGFGNVSANTDT	477
KCNH4	-------------------------SVGGP>S<RRSAYIAALYFTLSSLTSVGFGNVCANTDA	451
KCNH5	-----T-S-----------A--GI-WEGGP>S<KDSLYVSSLYFTMTSLTTIGFGNIAPTTDV	444
KCNH6	-------D-----------P------ASGP>S<VQDKYVTALYFTFSSLTSVGFGNVSPNTNS	488
KCNH7	-------D-----------S------SSGP>S<IKDKYVTALYFTFSSLTSVGFGNVSPNTNS	639
KCNH8	-------------------------TLGGP>S<IRSAYIAALYFTLSSLTSVGFGNVSANTDA	446
CNGA1	---------------------------EFG>R<LARKYVYSLYWSTLTLTTIG-ETPPPVRDS	373
CNGA2	---------------------------EYG>Y<LAREYIYCLYWSTLTLTTIG-ETPPPVKDE	348
CNGA3	---------------------------EHG>R<LSRKYIYSLYWSTLTLTTIG-ETPPPVKDE	376
CNGA4	---------------------------GFE>R<LRRQYLYSFYFSTLILTTVG-DTPPPAREE	242
CNGB1	------------------------------>G<VGNSYIRCYYFAVKTLITIG-GLPDPKTLF	856
CNGB3	------------------------------>G<EGNEYLRCYYWAVRTLITIG-GLPEPQTLF	418
HCN1	---------------------------VND>S<WGKQYSYALFKAMSHMLCIGYGAQAPVSMS	370
HCN2	---------------------------VNH>S<WSELYSFALFKAMSHMLCIGYGRQAPESMT	439
HCN3	---------------------------VNH>S<WGRQYSHALFKAMSHMLCIGYGQQAPVGMP	323
HCN4	---------------------------VNN>S<WGKQYSYALFKAMSHMLCIGYGRQAPVGMS	490
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S606P	c.1816T>C	Inherited Arrhythmia	LQTS	rs199473523	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445
p.S606F	c.1817C>T	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	[Novel mutation in long QT syndrome in a patient with prior diagnosis of epilepsy]. Rev Port Cardiol. 2011 30(12):929-35. 22104571