Paralogue Annotation for KCNH2 residue 618

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 618
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 618

No paralogue variants have been mapped to residue 618 for KCNH2.



KCNH2--------------LGGPSIKDKYVTALYF>T<FSSLTSVGFGNVSPNTNSEKIFSICVMLIG648
KCNH1-------S--GK-WEGGPSKNSVYISSLYF>T<MTSLTSVGFGNIAPSTDIEKIFAVAIMMIG487
KCNH3CSSSSEANGTGLELLGGPSLRSAYITSLYF>A<LSSLTSVGFGNVSANTDTEKIFSICTMLIG489
KCNH4-------------SVGGPSRRSAYIAALYF>T<LSSLTSVGFGNVCANTDAEKIFSICTMLIG463
KCNH5-------A--GI-WEGGPSKDSLYVSSLYF>T<MTSLTTIGFGNIAPTTDVEKMFSVAMMMVG456
KCNH6-------P------ASGPSVQDKYVTALYF>T<FSSLTSVGFGNVSPNTNSEKVFSICVMLIG500
KCNH7-------S------SSGPSIKDKYVTALYF>T<FSSLTSVGFGNVSPNTNSEKIFSICVMLIG651
KCNH8-------------TLGGPSIRSAYIAALYF>T<LSSLTSVGFGNVSANTDAEKIFSICTMLIG458
CNGA1---------------EFGRLARKYVYSLYW>S<TLTLTTIG-ETPPPVRDSEYVFVVVDFLIG385
CNGA2---------------EYGYLAREYIYCLYW>S<TLTLTTIG-ETPPPVKDEEYLFVIFDFLIG360
CNGA3---------------EHGRLSRKYIYSLYW>S<TLTLTTIG-ETPPPVKDEEYLFVVVDFLVG388
CNGA4---------------GFERLRRQYLYSFYF>S<TLILTTVG-DTPPPAREEEYLFMVGDFLLA254
CNGB1------------------GVGNSYIRCYYF>A<VKTLITIG-GLPDPKTLFEIVFQLLNYFTG868
CNGB3------------------GEGNEYLRCYYW>A<VRTLITIG-GLPEPQTLFEIVFQLLNFFSG430
HCN1---------------VNDSWGKQYSYALFK>A<MSHMLCIGYGAQAPVSMSDLWITMLSMIVG382
HCN2---------------VNHSWSELYSFALFK>A<MSHMLCIGYGRQAPESMTDIWLTMLSMIVG451
HCN3---------------VNHSWGRQYSHALFK>A<MSHMLCIGYGQQAPVGMPDVWLTMLSMIVG335
HCN4---------------VNNSWGKQYSYALFK>A<MSHMLCIGYGRQAPVGMSDVWLTMLSMIVG502
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T618Ic.1853C>T Inherited ArrhythmiaSQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaSQTS A novel mutation in the KCNH2 gene associated with short QT syndrome. J Mol Cell Cardiol. 2011 50(3):433-41. 21130771
Inherited ArrhythmiaSQTS Action potential clamp and pharmacology of the variant 1 Short QT Syndrome T618I hERG K⁺ channel. PLoS One. 2012 7(12):e52451. doi: 10.1371/journal.pone.0052451. 23300672
p.T618Sc.1853C>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013