Paralogue Annotation for KCNH2 residue 585

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 585
Reference Amino Acid: W - Tryptophan
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 585

No paralogue variants have been mapped to residue 585 for KCNH2.

KCNH2	LIAHWLACIWYAIGNMEQPHMDSR----IG>W<LHNLGDQIGKPYNSS----------G----	601
KCNH1	LAAHWMACIWYSIGDYEIFDEDTKTIRNNS>W<LYQLAMDIGTPYQFN--------GSG----	436
KCNH3	LLAHWVACVWFYIGQREIESSESELPE-IG>W<LQELARRLETPYYLVGRRPAGGNSSGQSDN	428
KCNH4	LLAHWMACIWYVIGRREMEANDPLLWD-IG>W<LHELGKRLEVPYVNG---------------	415
KCNH5	LVAHWLACIWYSIGDYEVIDEVTNTIQIDS>W<LYQLALSIGTPYRYN--------T-S----	405
KCNH6	LIAHWLACIWYAIGNVERPYLEHK----IG>W<LDSLGVQLGKRYNGS----------D----	452
KCNH7	LIAHWLACIWYAIGNVERPYLTDK----IG>W<LDSLGQQIGKRYNDS----------D----	603
KCNH8	LLAHWMACIWYVIGKMEREDNSLLKWE-VG>W<LHELGKRLESPYYGNN--------------	410
CNGA1	IIIHWNACVFYSISKAIGFGND-------T>W<VYPD---INDP-------------------	340
CNGA2	VIIHWNACIYYAISKSIGFGVD-------T>W<VYPN---ITDP-------------------	315
CNGA3	IIIHWNACIYFAISKFIGFGTD-------S>W<VYPN---ISIP-------------------	343
CNGA4	VVIHWNSCLYFALSRYLGFGRD-------A>W<VYPD---PAQP-------------------	209
CNGB1	YSLHLNSCLYYWASAYQGLGST-------H>W<VYD---------------------------	826
CNGB3	FILHINACVYYWASNYEGIGTT-------R>W<VYD---------------------------	388
HCN1	LLCHWDGCLQFLVPLLQDFPPD-------C>W<VS-----LNEM-------------------	336
HCN2	LLCHWDGCLQFLVPMLQDFPRN-------C>W<VS-----INGM-------------------	405
HCN3	LLCHWDGCLQFLVPMLQDFPPD-------C>W<VS-----INHM-------------------	289
HCN4	LLCHWDGCLQFLVPMLQDFPDD-------C>W<VS-----INNM-------------------	456
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See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W585C	c.1755G>T	Inherited Arrhythmia	LQTS	rs199473430	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
		Inherited Arrhythmia	LQTS	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
		Inherited Arrhythmia	LQTS	Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810
p.Trp585Leu	c.1754G>T	Unknown			SIFT: Polyphen: