Paralogue Annotation for KCNH2 residue 637

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 637
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 637

No paralogue variants have been mapped to residue 637 for KCNH2.



KCNH2IKDKYVTALYFTFSSLTSVGFGNVSPNTNS>E<KIFSICVMLIGSLMYASIFGNVSAIIQRLY667
KCNH1KNSVYISSLYFTMTSLTSVGFGNIAPSTDI>E<KIFAVAIMMIGSLLYATIFGNVTTIFQQMY506
KCNH3LRSAYITSLYFALSSLTSVGFGNVSANTDT>E<KIFSICTMLIGALMHAVVFGNVTAIIQRMY508
KCNH4RRSAYIAALYFTLSSLTSVGFGNVCANTDA>E<KIFSICTMLIGALMHAVVFGNVTAIIQRMY482
KCNH5KDSLYVSSLYFTMTSLTTIGFGNIAPTTDV>E<KMFSVAMMMVGSLLYATIFGNVTTIFQQMY475
KCNH6VQDKYVTALYFTFSSLTSVGFGNVSPNTNS>E<KVFSICVMLIGSLMYASIFGNVSAIIQRLY519
KCNH7IKDKYVTALYFTFSSLTSVGFGNVSPNTNS>E<KIFSICVMLIGSLMYASIFGNVSAIIQRLY670
KCNH8IRSAYIAALYFTLSSLTSVGFGNVSANTDA>E<KIFSICTMLIGALMHALVFGNVTAIIQRMY477
CNGA1LARKYVYSLYWSTLTLTTIG-ETPPPVRDS>E<YVFVVVDFLIGVLIFATIVGNIGSMISNMN404
CNGA2LAREYIYCLYWSTLTLTTIG-ETPPPVKDE>E<YLFVIFDFLIGVLIFATIVGNVGSMISNMN379
CNGA3LSRKYIYSLYWSTLTLTTIG-ETPPPVKDE>E<YLFVVVDFLVGVLIFATIVGNVGSMISNMN407
CNGA4LRRQYLYSFYFSTLILTTVG-DTPPPAREE>E<YLFMVGDFLLAVMGFATIMGSMSSVIYNMN273
CNGB1VGNSYIRCYYFAVKTLITIG-GLPDPKTLF>E<IVFQLLNYFTGVFAFSVMIGQMRDVVGAAT887
CNGB3EGNEYLRCYYWAVRTLITIG-GLPEPQTLF>E<IVFQLLNFFSGVFVFSSLIGQMRDVIGAAT449
HCN1WGKQYSYALFKAMSHMLCIGYGAQAPVSMS>D<LWITMLSMIVGATCYAMFVGHATALIQSLD401
HCN2WSELYSFALFKAMSHMLCIGYGRQAPESMT>D<IWLTMLSMIVGATCYAMFIGHATALIQSLD470
HCN3WGRQYSHALFKAMSHMLCIGYGQQAPVGMP>D<VWLTMLSMIVGATCYAMFIGHATALIQSLD354
HCN4WGKQYSYALFKAMSHMLCIGYGRQAPVGMS>D<VWLTMLSMIVGATCYAMFIGHATALIQSLD521
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E637Dc.1911G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
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.E637Gc.1910A>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Functional effects of a missense mutation in HERG associated with type 2 long QT syndrome. Heart Rhythm. 2011 8(3):463-70. 21109023
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.E637Kc.1909G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome. Cardiovasc Res. 2002 54(1):67-76. 12062363
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