Paralogue Annotation for KCNH2 residue 457

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 457
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 457

No paralogue variants have been mapped to residue 457 for KCNH2.



KCNH2YSAAFLLKETEEGPPATECGYACQPLAVVD>L<IVDIMFIVDI-LINFRTTYVN-ANEEVVSH485
KCNH1YNVSFKTRQN------------NVAWLVVD>S<IVDVIFLVDI-VLNFHTTFVG-PAGEVISD283
KCNH3YSVCVSTARE--------PSAARGPPSVCD>L<AVEVLFILDI-VLNFRTTFVS-KSGQVVFA294
KCNH4YNVCFSGDDD--------TPITSRHTLVSD>I<AVEMLFILDI-ILNFRTTYVS-QSGQVISA296
KCNH5YNVSFKTKQN------------NIAWLVLD>S<VVDVIFLVDI-VLNFHTTFVG-PGGEVISD280
KCNH6YSAAFLLSDQDE-SRRGACSYTCSPLTVVD>L<IVDIMFVVDI-VINFRTTYVN-TNDEVVSH333
KCNH7YSAAFLLNDREE-QKRRECGYSCSPLNVVD>L<IVDIMFIIDI-LINFRTTYVN-QNEEVVSD484
KCNH8YNVCFIGNDD--------LS-TTRSTTVSD>I<AVEILFIIDI-ILNFRTTYVS-KSGQVIFE290
CNGA1ARACFDELQS----------DYLEYWLILD>Y<VSDIVYLIDM-FVRTRTGYLE--QGLLVKE232
CNGA2ARACFSDLQK----------GYYLVWLVLD>Y<VSDVVYIADL-FIRLRTGFLE--QGLLVKD207
CNGA3CRACFDELQS----------EYLMLWLVLD>Y<SADVLYVLDV-LVRARTGFLE--QGLMVSD235
CNGA4CRACFPDLQH----------GYLVAWLVLD>Y<TSDLLYLLDM-VVRFHTGFLE--QGILVVD101
CNGB1VRWAFPYQTP----------DNIHHWLLMD>Y<LCDLIYFLDITVFQTRLQFVR--GGDIITD724
CNGB3LRLVFPYQTA----------DNIHYWLIAD>I<ICDIIYLYDMLFIQPRLQFVR--GGDIIVD286
HCN1VGITFFTEQT------------TTPWIIFN>V<ASDTVFLLDL-IMNFRTGTVNEDSSEIILD209
HCN2VGITFFKDET------------TAPWIVFN>V<VSDTFFLMDL-VLNFRTGIVIEDNTEIILD278
HCN3VGITFFKEEN------------SPPWIVFN>V<LSDTFFLLDL-VLNFRTGIVVEEGAEILLA160
HCN4VGITFFKDEN------------TTPWIVFN>V<VSDTFFLIDL-VLNFRTGIVVEDNTEIILD329
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L457Pc.1370T>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715