No paralogue variants have been mapped to residue 480 for KCNH2.
| KCNH2 | LAVVDLIVDIMFIVDI-LINFRTTYVN-AN>E<EVVSHPGRIAVHYFKGW-FLIDMVAAIPFD | 509 |
| KCNH1 | WLVVDSIVDVIFLVDI-VLNFHTTFVG-PA>G<EVISDPKLIRMNYLKTW-FVIDLLSCLPYD | 307 |
| KCNH3 | PSVCDLAVEVLFILDI-VLNFRTTFVS-KS>G<QVVFAPKSICLHYVTTW-FLLDVIAALPFD | 318 |
| KCNH4 | TLVSDIAVEMLFILDI-ILNFRTTYVS-QS>G<QVISAPRSIGLHYLATW-FFIDLIAALPFD | 320 |
| KCNH5 | WLVLDSVVDVIFLVDI-VLNFHTTFVG-PG>G<EVISDPKLIRMNYLKTW-FVIDLLSCLPYD | 304 |
| KCNH6 | LTVVDLIVDIMFVVDI-VINFRTTYVN-TN>D<EVVSHPRRIAVHYFKGW-FLIDMVAAIPFD | 357 |
| KCNH7 | LNVVDLIVDIMFIIDI-LINFRTTYVN-QN>E<EVVSDPAKIAIHYFKGW-FLIDMVAAIPFD | 508 |
| KCNH8 | TTVSDIAVEILFIIDI-ILNFRTTYVS-KS>G<QVIFEARSICIHYVTTW-FIIDLIAALPFD | 314 |
| CNGA1 | WLILDYVSDIVYLIDM-FVRTRTGYLE--Q>G<LLVKEELKLINKYKSNLQFKLDVLSLIPTD | 257 |
| CNGA2 | WLVLDYVSDVVYIADL-FIRLRTGFLE--Q>G<LLVKDTKKLRDNYIHTLQFKLDVASIIPTD | 232 |
| CNGA3 | WLVLDYSADVLYVLDV-LVRARTGFLE--Q>G<LMVSDTNRLWQHYKTTTQFKLDVLSLVPTD | 260 |
| CNGA4 | WLVLDYTSDLLYLLDM-VVRFHTGFLE--Q>G<ILVVDKGRISSRYVRTWSFFLDLASLMPTD | 126 |
| CNGB1 | WLLMDYLCDLIYFLDITVFQTRLQFVR--G>G<DIITDKKDMRNNYLKSRRFKMDLLSLLPLD | 749 |
| CNGB3 | WLIADIICDIIYLYDMLFIQPRLQFVR--G>G<DIIVDSNELRKHYRTSTKFQLDVASIIPFD | 311 |
| HCN1 | WIIFNVASDTVFLLDL-IMNFRTGTVNEDS>S<EIILDPKVIKMNYLKSW-FVVDFISSIPVD | 233 |
| HCN2 | WIVFNVVSDTFFLMDL-VLNFRTGIVIEDN>T<EIILDPEKIKKKYLRTW-FVVDFVSSIPVD | 302 |
| HCN3 | WIVFNVLSDTFFLLDL-VLNFRTGIVVEEG>A<EILLAPRAIRTRYLRTW-FLVDLISSIPVD | 184 |
| HCN4 | WIVFNVVSDTFFLIDL-VLNFRTGIVVEDN>T<EIILDPQRIKMKYLKSW-FMVDFISSIPVD | 353 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E480K | c.1438G>A | Putative Benign | rs267601413 | SIFT: deleterious Polyphen: possibly damaging | |
| p.E480V | c.1439A>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715 | ||