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.



KCNH2LIAHWLACIWYAIGNMEQPHMDSR----IG>W<LHNLGDQIGKPYNSS----------G----601
KCNH1LAAHWMACIWYSIGDYEIFDEDTKTIRNNS>W<LYQLAMDIGTPYQFN--------GSG----436
KCNH3LLAHWVACVWFYIGQREIESSESELPE-IG>W<LQELARRLETPYYLVGRRPAGGNSSGQSDN428
KCNH4LLAHWMACIWYVIGRREMEANDPLLWD-IG>W<LHELGKRLEVPYVNG---------------415
KCNH5LVAHWLACIWYSIGDYEVIDEVTNTIQIDS>W<LYQLALSIGTPYRYN--------T-S----405
KCNH6LIAHWLACIWYAIGNVERPYLEHK----IG>W<LDSLGVQLGKRYNGS----------D----452
KCNH7LIAHWLACIWYAIGNVERPYLTDK----IG>W<LDSLGQQIGKRYNDS----------D----603
KCNH8LLAHWMACIWYVIGKMEREDNSLLKWE-VG>W<LHELGKRLESPYYGNN--------------410
CNGA1IIIHWNACVFYSISKAIGFGND-------T>W<VYPD---INDP-------------------340
CNGA2VIIHWNACIYYAISKSIGFGVD-------T>W<VYPN---ITDP-------------------315
CNGA3IIIHWNACIYFAISKFIGFGTD-------S>W<VYPN---ISIP-------------------343
CNGA4VVIHWNSCLYFALSRYLGFGRD-------A>W<VYPD---PAQP-------------------209
CNGB1YSLHLNSCLYYWASAYQGLGST-------H>W<VYD---------------------------826
CNGB3FILHINACVYYWASNYEGIGTT-------R>W<VYD---------------------------388
HCN1LLCHWDGCLQFLVPLLQDFPPD-------C>W<VS-----LNEM-------------------336
HCN2LLCHWDGCLQFLVPMLQDFPRN-------C>W<VS-----INGM-------------------405
HCN3LLCHWDGCLQFLVPMLQDFPPD-------C>W<VS-----INHM-------------------289
HCN4LLCHWDGCLQFLVPMLQDFPDD-------C>W<VS-----INNM-------------------456
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W585Cc.1755G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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.Trp585Leuc.1754G>T UnknownSIFT:
Polyphen: