Paralogue Annotation for KCNH2 residue 617

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 617
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 617

No paralogue variants have been mapped to residue 617 for KCNH2.



KCNH2---------------LGGPSIKDKYVTALY>F<TFSSLTSVGFGNVSPNTNSEKIFSICVMLI647
KCNH1--------S--GK-WEGGPSKNSVYISSLY>F<TMTSLTSVGFGNIAPSTDIEKIFAVAIMMI486
KCNH3NCSSSSEANGTGLELLGGPSLRSAYITSLY>F<ALSSLTSVGFGNVSANTDTEKIFSICTMLI488
KCNH4--------------SVGGPSRRSAYIAALY>F<TLSSLTSVGFGNVCANTDAEKIFSICTMLI462
KCNH5--------A--GI-WEGGPSKDSLYVSSLY>F<TMTSLTTIGFGNIAPTTDVEKMFSVAMMMV455
KCNH6--------P------ASGPSVQDKYVTALY>F<TFSSLTSVGFGNVSPNTNSEKVFSICVMLI499
KCNH7--------S------SSGPSIKDKYVTALY>F<TFSSLTSVGFGNVSPNTNSEKIFSICVMLI650
KCNH8--------------TLGGPSIRSAYIAALY>F<TLSSLTSVGFGNVSANTDAEKIFSICTMLI457
CNGA1----------------EFGRLARKYVYSLY>W<STLTLTTIG-ETPPPVRDSEYVFVVVDFLI384
CNGA2----------------EYGYLAREYIYCLY>W<STLTLTTIG-ETPPPVKDEEYLFVIFDFLI359
CNGA3----------------EHGRLSRKYIYSLY>W<STLTLTTIG-ETPPPVKDEEYLFVVVDFLV387
CNGA4----------------GFERLRRQYLYSFY>F<STLILTTVG-DTPPPAREEEYLFMVGDFLL253
CNGB1-------------------GVGNSYIRCYY>F<AVKTLITIG-GLPDPKTLFEIVFQLLNYFT867
CNGB3-------------------GEGNEYLRCYY>W<AVRTLITIG-GLPEPQTLFEIVFQLLNFFS429
HCN1----------------VNDSWGKQYSYALF>K<AMSHMLCIGYGAQAPVSMSDLWITMLSMIV381
HCN2----------------VNHSWSELYSFALF>K<AMSHMLCIGYGRQAPESMTDIWLTMLSMIV450
HCN3----------------VNHSWGRQYSHALF>K<AMSHMLCIGYGQQAPVGMPDVWLTMLSMIV334
HCN4----------------VNNSWGKQYSYALF>K<AMSHMLCIGYGRQAPVGMSDVWLTMLSMIV501
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F617Lc.1849T>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. PLoS One. 2015 10(7):e0130329. doi: 10.1371/journal.pone.0130329. 26132555
p.F617Vc.1849T>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Novel life-threatening mutation in LQT2 syndrome. Kardiol Pol. 2015 25987402