No paralogue variants have been mapped to residue 468 for KCNH2.
| KCNH2 | GPPATECGYACQPLAVVDLIVDIMFIVDI->L<INFRTTYVN-ANEEVVSHPGRIAVHYFKGW | 497 |
| KCNH1 | ----------NVAWLVVDSIVDVIFLVDI->V<LNFHTTFVG-PAGEVISDPKLIRMNYLKTW | 295 |
| KCNH3 | ------PSAARGPPSVCDLAVEVLFILDI->V<LNFRTTFVS-KSGQVVFAPKSICLHYVTTW | 306 |
| KCNH4 | ------TPITSRHTLVSDIAVEMLFILDI->I<LNFRTTYVS-QSGQVISAPRSIGLHYLATW | 308 |
| KCNH5 | ----------NIAWLVLDSVVDVIFLVDI->V<LNFHTTFVG-PGGEVISDPKLIRMNYLKTW | 292 |
| KCNH6 | -SRRGACSYTCSPLTVVDLIVDIMFVVDI->V<INFRTTYVN-TNDEVVSHPRRIAVHYFKGW | 345 |
| KCNH7 | -QKRRECGYSCSPLNVVDLIVDIMFIIDI->L<INFRTTYVN-QNEEVVSDPAKIAIHYFKGW | 496 |
| KCNH8 | ------LS-TTRSTTVSDIAVEILFIIDI->I<LNFRTTYVS-KSGQVIFEARSICIHYVTTW | 302 |
| CNGA1 | --------DYLEYWLILDYVSDIVYLIDM->F<VRTRTGYLE--QGLLVKEELKLINKYKSNL | 244 |
| CNGA2 | --------GYYLVWLVLDYVSDVVYIADL->F<IRLRTGFLE--QGLLVKDTKKLRDNYIHTL | 219 |
| CNGA3 | --------EYLMLWLVLDYSADVLYVLDV->L<VRARTGFLE--QGLMVSDTNRLWQHYKTTT | 247 |
| CNGA4 | --------GYLVAWLVLDYTSDLLYLLDM->V<VRFHTGFLE--QGILVVDKGRISSRYVRTW | 113 |
| CNGB1 | --------DNIHHWLLMDYLCDLIYFLDIT>V<FQTRLQFVR--GGDIITDKKDMRNNYLKSR | 736 |
| CNGB3 | --------DNIHYWLIADIICDIIYLYDML>F<IQPRLQFVR--GGDIIVDSNELRKHYRTST | 298 |
| HCN1 | ----------TTPWIIFNVASDTVFLLDL->I<MNFRTGTVNEDSSEIILDPKVIKMNYLKSW | 221 |
| HCN2 | ----------TAPWIVFNVVSDTFFLMDL->V<LNFRTGIVIEDNTEIILDPEKIKKKYLRTW | 290 |
| HCN3 | ----------SPPWIVFNVLSDTFFLLDL->V<LNFRTGIVVEEGAEILLAPRAIRTRYLRTW | 172 |
| HCN4 | ----------TTPWIVFNVVSDTFFLIDL->V<LNFRTGIVVEDNTEIILDPQRIKMKYLKSW | 341 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L468F | c.1402C>T | Putative Benign | rs267601414 | SIFT: tolerated Polyphen: probably damaging |