No paralogue variants have been mapped to residue 443 for KCNH2.
KCNH2 | LILLLVIYTAVFTPYSAAFLLKETEEGPPA>T<ECGYACQPLAVVDLIVDIMFIVDI-LINFR | 472 |
KCNH1 | IILILTFYTAILVPYNVSFKTRQN------>-<-----NVAWLVVDSIVDVIFLVDI-VLNFH | 270 |
KCNH3 | FILLATLYVAVTVPYSVCVSTARE------>-<-PSAARGPPSVCDLAVEVLFILDI-VLNFR | 281 |
KCNH4 | LILLATFYVAVTVPYNVCFSGDDD------>-<-TPITSRHTLVSDIAVEMLFILDI-ILNFR | 283 |
KCNH5 | VILILTFYTAIMVPYNVSFKTKQN------>-<-----NIAWLVLDSVVDVIFLVDI-VLNFH | 267 |
KCNH6 | LILLLVIYTAVFTPYSAAFLLSDQDE-SRR>G<ACSYTCSPLTVVDLIVDIMFVVDI-VINFR | 320 |
KCNH7 | LILLLVIYTAIFTPYSAAFLLNDREE-QKR>R<ECGYSCSPLNVVDLIVDIMFIIDI-LINFR | 471 |
KCNH8 | LILLATFYVAVTVPYNVCFIGNDD------>-<-LS-TTRSTTVSDIAVEILFIIDI-ILNFR | 277 |
CNGA1 | CITLPVMYNWTMVIARACFDELQS------>-<---DYLEYWLILDYVSDIVYLIDM-FVRTR | 220 |
CNGA2 | VIAMPVLYNWCLLVARACFSDLQK------>-<---GYYLVWLVLDYVSDVVYIADL-FIRLR | 195 |
CNGA3 | AIALPVFYNWYLLICRACFDELQS------>-<---EYLMLWLVLDYSADVLYVLDV-LVRAR | 223 |
CNGA4 | TMVFPVMYNLIILVCRACFPDLQH------>-<---GYLVAWLVLDYTSDLLYLLDM-VVRFH | 89 |
CNGB1 | FVVMAWNWNCWLIPVRWAFPYQTP------>-<---DNIHHWLLMDYLCDLIYFLDITVFQTR | 712 |
CNGB3 | LVTLAYNWNCCFIPLRLVFPYQTA------>-<---DNIHYWLIADIICDIIYLYDMLFIQPR | 274 |
HCN1 | IMLIMMVGNLVIIPVGITFFTEQT------>-<-----TTPWIIFNVASDTVFLLDL-IMNFR | 195 |
HCN2 | TMLLFMVGNLIIIPVGITFFKDET------>-<-----TAPWIVFNVVSDTFFLMDL-VLNFR | 264 |
HCN3 | IMLLLMVGNLIVLPVGITFFKEEN------>-<-----SPPWIVFNVLSDTFFLLDL-VLNFR | 146 |
HCN4 | TMLLLMVGNLIIIPVGITFFKDEN------>-<-----TTPWIVFNVVSDTFFLIDL-VLNFR | 315 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T443N | c.1328C>A | Putative Benign | SIFT: Polyphen: |