Paralogue Annotation for KCNH2 residue 603

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 603
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 603

No paralogue variants have been mapped to residue 603 for KCNH2.



KCNH2----------G------------------L>G<GPSIKDKYVTALYFTFSSLTSVGFGNVSPN633
KCNH1--------GSG-----------S--GK-WE>G<GPSKNSVYISSLYFTMTSLTSVGFGNIAPS472
KCNH3GRRPAGGNSSGQSDNCSSSSEANGTGLELL>G<GPSLRSAYITSLYFALSSLTSVGFGNVSAN474
KCNH4----------------------------SV>G<GPSRRSAYIAALYFTLSSLTSVGFGNVCAN448
KCNH5--------T-S-----------A--GI-WE>G<GPSKDSLYVSSLYFTMTSLTTIGFGNIAPT441
KCNH6----------D-----------P------A>S<GPSVQDKYVTALYFTFSSLTSVGFGNVSPN485
KCNH7----------D-----------S------S>S<GPSIKDKYVTALYFTFSSLTSVGFGNVSPN636
KCNH8N---------------------------TL>G<GPSIRSAYIAALYFTLSSLTSVGFGNVSAN443
CNGA1------------------------------>E<FGRLARKYVYSLYWSTLTLTTIG-ETPPPV370
CNGA2------------------------------>E<YGYLAREYIYCLYWSTLTLTTIG-ETPPPV345
CNGA3------------------------------>E<HGRLSRKYIYSLYWSTLTLTTIG-ETPPPV373
CNGA4------------------------------>G<FERLRRQYLYSFYFSTLILTTVG-DTPPPA239
CNGB1------------------------------>-<--GVGNSYIRCYYFAVKTLITIG-GLPDPK853
CNGB3------------------------------>-<--GEGNEYLRCYYWAVRTLITIG-GLPEPQ415
HCN1------------------------------>V<NDSWGKQYSYALFKAMSHMLCIGYGAQAPV367
HCN2------------------------------>V<NHSWSELYSFALFKAMSHMLCIGYGRQAPE436
HCN3------------------------------>V<NHSWGRQYSHALFKAMSHMLCIGYGQQAPV320
HCN4------------------------------>V<NNSWGKQYSYALFKAMSHMLCIGYGRQAPV487
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G603Dc.1808G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS The generation of induced pluripotent stem cells from a patient with KCNH2 G603D, without LQT2 disease associated symptom. J Med Dent Sci. 2013 60(1):17-22. 23917959