No paralogue variants have been mapped to residue 458 for KCNH2.
KCNH2 | SAAFLLKETEEGPPATECGYACQPLAVVDL>I<VDIMFIVDI-LINFRTTYVN-ANEEVVSHP | 486 |
KCNH1 | NVSFKTRQN------------NVAWLVVDS>I<VDVIFLVDI-VLNFHTTFVG-PAGEVISDP | 284 |
KCNH3 | SVCVSTARE--------PSAARGPPSVCDL>A<VEVLFILDI-VLNFRTTFVS-KSGQVVFAP | 295 |
KCNH4 | NVCFSGDDD--------TPITSRHTLVSDI>A<VEMLFILDI-ILNFRTTYVS-QSGQVISAP | 297 |
KCNH5 | NVSFKTKQN------------NIAWLVLDS>V<VDVIFLVDI-VLNFHTTFVG-PGGEVISDP | 281 |
KCNH6 | SAAFLLSDQDE-SRRGACSYTCSPLTVVDL>I<VDIMFVVDI-VINFRTTYVN-TNDEVVSHP | 334 |
KCNH7 | SAAFLLNDREE-QKRRECGYSCSPLNVVDL>I<VDIMFIIDI-LINFRTTYVN-QNEEVVSDP | 485 |
KCNH8 | NVCFIGNDD--------LS-TTRSTTVSDI>A<VEILFIIDI-ILNFRTTYVS-KSGQVIFEA | 291 |
CNGA1 | RACFDELQS----------DYLEYWLILDY>V<SDIVYLIDM-FVRTRTGYLE--QGLLVKEE | 233 |
CNGA2 | RACFSDLQK----------GYYLVWLVLDY>V<SDVVYIADL-FIRLRTGFLE--QGLLVKDT | 208 |
CNGA3 | RACFDELQS----------EYLMLWLVLDY>S<ADVLYVLDV-LVRARTGFLE--QGLMVSDT | 236 |
CNGA4 | RACFPDLQH----------GYLVAWLVLDY>T<SDLLYLLDM-VVRFHTGFLE--QGILVVDK | 102 |
CNGB1 | RWAFPYQTP----------DNIHHWLLMDY>L<CDLIYFLDITVFQTRLQFVR--GGDIITDK | 725 |
CNGB3 | RLVFPYQTA----------DNIHYWLIADI>I<CDIIYLYDMLFIQPRLQFVR--GGDIIVDS | 287 |
HCN1 | GITFFTEQT------------TTPWIIFNV>A<SDTVFLLDL-IMNFRTGTVNEDSSEIILDP | 210 |
HCN2 | GITFFKDET------------TAPWIVFNV>V<SDTFFLMDL-VLNFRTGIVIEDNTEIILDP | 279 |
HCN3 | GITFFKEEN------------SPPWIVFNV>L<SDTFFLLDL-VLNFRTGIVVEEGAEILLAP | 161 |
HCN4 | GITFFKDEN------------TTPWIVFNV>V<SDTFFLIDL-VLNFRTGIVVEDNTEIILDP | 330 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I458V | c.1372A>G | Putative Benign | rs374303744 | SIFT: tolerated Polyphen: benign |