Paralogue Annotation for KCNH2 residue 456

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 456
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 456

No paralogue variants have been mapped to residue 456 for KCNH2.



KCNH2PYSAAFLLKETEEGPPATECGYACQPLAVV>D<LIVDIMFIVDI-LINFRTTYVN-ANEEVVS484
KCNH1PYNVSFKTRQN------------NVAWLVV>D<SIVDVIFLVDI-VLNFHTTFVG-PAGEVIS282
KCNH3PYSVCVSTARE--------PSAARGPPSVC>D<LAVEVLFILDI-VLNFRTTFVS-KSGQVVF293
KCNH4PYNVCFSGDDD--------TPITSRHTLVS>D<IAVEMLFILDI-ILNFRTTYVS-QSGQVIS295
KCNH5PYNVSFKTKQN------------NIAWLVL>D<SVVDVIFLVDI-VLNFHTTFVG-PGGEVIS279
KCNH6PYSAAFLLSDQDE-SRRGACSYTCSPLTVV>D<LIVDIMFVVDI-VINFRTTYVN-TNDEVVS332
KCNH7PYSAAFLLNDREE-QKRRECGYSCSPLNVV>D<LIVDIMFIIDI-LINFRTTYVN-QNEEVVS483
KCNH8PYNVCFIGNDD--------LS-TTRSTTVS>D<IAVEILFIIDI-ILNFRTTYVS-KSGQVIF289
CNGA1IARACFDELQS----------DYLEYWLIL>D<YVSDIVYLIDM-FVRTRTGYLE--QGLLVK231
CNGA2VARACFSDLQK----------GYYLVWLVL>D<YVSDVVYIADL-FIRLRTGFLE--QGLLVK206
CNGA3ICRACFDELQS----------EYLMLWLVL>D<YSADVLYVLDV-LVRARTGFLE--QGLMVS234
CNGA4VCRACFPDLQH----------GYLVAWLVL>D<YTSDLLYLLDM-VVRFHTGFLE--QGILVV100
CNGB1PVRWAFPYQTP----------DNIHHWLLM>D<YLCDLIYFLDITVFQTRLQFVR--GGDIIT723
CNGB3PLRLVFPYQTA----------DNIHYWLIA>D<IICDIIYLYDMLFIQPRLQFVR--GGDIIV285
HCN1PVGITFFTEQT------------TTPWIIF>N<VASDTVFLLDL-IMNFRTGTVNEDSSEIIL208
HCN2PVGITFFKDET------------TAPWIVF>N<VVSDTFFLMDL-VLNFRTGIVIEDNTEIIL277
HCN3PVGITFFKEEN------------SPPWIVF>N<VLSDTFFLLDL-VLNFRTGIVVEEGAEILL159
HCN4PVGITFFKDEN------------TTPWIVF>N<VVSDTFFLIDL-VLNFRTGIVVEDNTEIIL328
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D456Yc.1366G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067
Inherited ArrhythmiaLQTS An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164
p.D456Gc.1367A>G Putative BenignSIFT: deleterious
Polyphen: probably damaging