Paralogue Annotation for KCNH2 residue 605

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 605
Reference Amino Acid: P - Proline
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 605

No paralogue variants have been mapped to residue 605 for KCNH2.



KCNH2--------G------------------LGG>P<SIKDKYVTALYFTFSSLTSVGFGNVSPNTN635
KCNH1------GSG-----------S--GK-WEGG>P<SKNSVYISSLYFTMTSLTSVGFGNIAPSTD474
KCNH3RPAGGNSSGQSDNCSSSSEANGTGLELLGG>P<SLRSAYITSLYFALSSLTSVGFGNVSANTD476
KCNH4--------------------------SVGG>P<SRRSAYIAALYFTLSSLTSVGFGNVCANTD450
KCNH5------T-S-----------A--GI-WEGG>P<SKDSLYVSSLYFTMTSLTTIGFGNIAPTTD443
KCNH6--------D-----------P------ASG>P<SVQDKYVTALYFTFSSLTSVGFGNVSPNTN487
KCNH7--------D-----------S------SSG>P<SIKDKYVTALYFTFSSLTSVGFGNVSPNTN638
KCNH8--------------------------TLGG>P<SIRSAYIAALYFTLSSLTSVGFGNVSANTD445
CNGA1----------------------------EF>G<RLARKYVYSLYWSTLTLTTIG-ETPPPVRD372
CNGA2----------------------------EY>G<YLAREYIYCLYWSTLTLTTIG-ETPPPVKD347
CNGA3----------------------------EH>G<RLSRKYIYSLYWSTLTLTTIG-ETPPPVKD375
CNGA4----------------------------GF>E<RLRRQYLYSFYFSTLILTTVG-DTPPPARE241
CNGB1------------------------------>-<GVGNSYIRCYYFAVKTLITIG-GLPDPKTL855
CNGB3------------------------------>-<GEGNEYLRCYYWAVRTLITIG-GLPEPQTL417
HCN1----------------------------VN>D<SWGKQYSYALFKAMSHMLCIGYGAQAPVSM369
HCN2----------------------------VN>H<SWSELYSFALFKAMSHMLCIGYGRQAPESM438
HCN3----------------------------VN>H<SWGRQYSHALFKAMSHMLCIGYGQQAPVGM322
HCN4----------------------------VN>N<SWGKQYSYALFKAMSHMLCIGYGRQAPVGM489
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P605Lc.1814C>T Inherited ArrhythmiaLQTSrs199472938SIFT: deleterious
Polyphen: probably damaging
ReportsInherited 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.P605Sc.1813C>T Inherited ArrhythmiaLQTSrs199472939SIFT: deleterious
Polyphen: probably damaging
ReportsInherited 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