Paralogue Annotation for KCNH2 residue 444

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 444
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 444

No paralogue variants have been mapped to residue 444 for KCNH2.



KCNH2ILLLVIYTAVFTPYSAAFLLKETEEGPPAT>E<CGYACQPLAVVDLIVDIMFIVDI-LINFRT473
KCNH1ILILTFYTAILVPYNVSFKTRQN------->-<----NVAWLVVDSIVDVIFLVDI-VLNFHT271
KCNH3ILLATLYVAVTVPYSVCVSTARE------->-<PSAARGPPSVCDLAVEVLFILDI-VLNFRT282
KCNH4ILLATFYVAVTVPYNVCFSGDDD------->-<TPITSRHTLVSDIAVEMLFILDI-ILNFRT284
KCNH5ILILTFYTAIMVPYNVSFKTKQN------->-<----NIAWLVLDSVVDVIFLVDI-VLNFHT268
KCNH6ILLLVIYTAVFTPYSAAFLLSDQDE-SRRG>A<CSYTCSPLTVVDLIVDIMFVVDI-VINFRT321
KCNH7ILLLVIYTAIFTPYSAAFLLNDREE-QKRR>E<CGYSCSPLNVVDLIVDIMFIIDI-LINFRT472
KCNH8ILLATFYVAVTVPYNVCFIGNDD------->-<LS-TTRSTTVSDIAVEILFIIDI-ILNFRT278
CNGA1ITLPVMYNWTMVIARACFDELQS------->-<--DYLEYWLILDYVSDIVYLIDM-FVRTRT221
CNGA2IAMPVLYNWCLLVARACFSDLQK------->-<--GYYLVWLVLDYVSDVVYIADL-FIRLRT196
CNGA3IALPVFYNWYLLICRACFDELQS------->-<--EYLMLWLVLDYSADVLYVLDV-LVRART224
CNGA4MVFPVMYNLIILVCRACFPDLQH------->-<--GYLVAWLVLDYTSDLLYLLDM-VVRFHT90
CNGB1VVMAWNWNCWLIPVRWAFPYQTP------->-<--DNIHHWLLMDYLCDLIYFLDITVFQTRL713
CNGB3VTLAYNWNCCFIPLRLVFPYQTA------->-<--DNIHYWLIADIICDIIYLYDMLFIQPRL275
HCN1MLIMMVGNLVIIPVGITFFTEQT------->-<----TTPWIIFNVASDTVFLLDL-IMNFRT196
HCN2MLLFMVGNLIIIPVGITFFKDET------->-<----TAPWIVFNVVSDTFFLMDL-VLNFRT265
HCN3MLLLMVGNLIVLPVGITFFKEEN------->-<----SPPWIVFNVLSDTFFLLDL-VLNFRT147
HCN4MLLLMVGNLIIIPVGITFFKDEN------->-<----TTPWIVFNVVSDTFFLIDL-VLNFRT316
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E444Dc.1332G>T Inherited ArrhythmiaLQTSrs9770044SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Hum Mutat. 2002 20(6):475-6. 12442276
p.E444Dc.1332G>C Putative Benignrs9770044SIFT: tolerated
Polyphen: benign
p.E444Kc.1330G>A Putative Benignrs201268831SIFT: tolerated
Polyphen: benign