No paralogue variants have been mapped to residue 444 for KCNH2.
KCNH2 | ILLLVIYTAVFTPYSAAFLLKETEEGPPAT>E<CGYACQPLAVVDLIVDIMFIVDI-LINFRT | 473 |
KCNH1 | ILILTFYTAILVPYNVSFKTRQN------->-<----NVAWLVVDSIVDVIFLVDI-VLNFHT | 271 |
KCNH3 | ILLATLYVAVTVPYSVCVSTARE------->-<PSAARGPPSVCDLAVEVLFILDI-VLNFRT | 282 |
KCNH4 | ILLATFYVAVTVPYNVCFSGDDD------->-<TPITSRHTLVSDIAVEMLFILDI-ILNFRT | 284 |
KCNH5 | ILILTFYTAIMVPYNVSFKTKQN------->-<----NIAWLVLDSVVDVIFLVDI-VLNFHT | 268 |
KCNH6 | ILLLVIYTAVFTPYSAAFLLSDQDE-SRRG>A<CSYTCSPLTVVDLIVDIMFVVDI-VINFRT | 321 |
KCNH7 | ILLLVIYTAIFTPYSAAFLLNDREE-QKRR>E<CGYSCSPLNVVDLIVDIMFIIDI-LINFRT | 472 |
KCNH8 | ILLATFYVAVTVPYNVCFIGNDD------->-<LS-TTRSTTVSDIAVEILFIIDI-ILNFRT | 278 |
CNGA1 | ITLPVMYNWTMVIARACFDELQS------->-<--DYLEYWLILDYVSDIVYLIDM-FVRTRT | 221 |
CNGA2 | IAMPVLYNWCLLVARACFSDLQK------->-<--GYYLVWLVLDYVSDVVYIADL-FIRLRT | 196 |
CNGA3 | IALPVFYNWYLLICRACFDELQS------->-<--EYLMLWLVLDYSADVLYVLDV-LVRART | 224 |
CNGA4 | MVFPVMYNLIILVCRACFPDLQH------->-<--GYLVAWLVLDYTSDLLYLLDM-VVRFHT | 90 |
CNGB1 | VVMAWNWNCWLIPVRWAFPYQTP------->-<--DNIHHWLLMDYLCDLIYFLDITVFQTRL | 713 |
CNGB3 | VTLAYNWNCCFIPLRLVFPYQTA------->-<--DNIHYWLIADIICDIIYLYDMLFIQPRL | 275 |
HCN1 | MLIMMVGNLVIIPVGITFFTEQT------->-<----TTPWIIFNVASDTVFLLDL-IMNFRT | 196 |
HCN2 | MLLFMVGNLIIIPVGITFFKDET------->-<----TAPWIVFNVVSDTFFLMDL-VLNFRT | 265 |
HCN3 | MLLLMVGNLIVLPVGITFFKEEN------->-<----SPPWIVFNVLSDTFFLLDL-VLNFRT | 147 |
HCN4 | MLLLMVGNLIIIPVGITFFKDEN------->-<----TTPWIVFNVVSDTFFLIDL-VLNFRT | 316 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E444D | c.1332G>T | Inherited Arrhythmia | LQTS | rs9770044 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Hum Mutat. 2002 20(6):475-6. 12442276 | ||
p.E444D | c.1332G>C | Putative Benign | rs9770044 | SIFT: tolerated Polyphen: benign | |
p.E444K | c.1330G>A | Putative Benign | rs201268831 | SIFT: tolerated Polyphen: benign |