No paralogue variants have been mapped to residue 488 for KCNH2.
| KCNH2 | DIMFIVDI-LINFRTTYVN-ANEEVVSHPG>R<IAVHYFKGW-FLIDMVAAIPFDLLIFGSGS | 517 |
| KCNH1 | DVIFLVDI-VLNFHTTFVG-PAGEVISDPK>L<IRMNYLKTW-FVIDLLSCLPYDVINAFENV | 315 |
| KCNH3 | EVLFILDI-VLNFRTTFVS-KSGQVVFAPK>S<ICLHYVTTW-FLLDVIAALPFDLLHAF-KV | 325 |
| KCNH4 | EMLFILDI-ILNFRTTYVS-QSGQVISAPR>S<IGLHYLATW-FFIDLIAALPFDLLYIF-NI | 327 |
| KCNH5 | DVIFLVDI-VLNFHTTFVG-PGGEVISDPK>L<IRMNYLKTW-FVIDLLSCLPYDIINAFENV | 312 |
| KCNH6 | DIMFVVDI-VINFRTTYVN-TNDEVVSHPR>R<IAVHYFKGW-FLIDMVAAIPFDLLIFRTGS | 365 |
| KCNH7 | DIMFIIDI-LINFRTTYVN-QNEEVVSDPA>K<IAIHYFKGW-FLIDMVAAIPFDLLIFGSGS | 516 |
| KCNH8 | EILFIIDI-ILNFRTTYVS-KSGQVIFEAR>S<ICIHYVTTW-FIIDLIAALPFDLLYAF-NV | 321 |
| CNGA1 | DIVYLIDM-FVRTRTGYLE--QGLLVKEEL>K<LINKYKSNLQFKLDVLSLIPTDLLYFKLGW | 265 |
| CNGA2 | DVVYIADL-FIRLRTGFLE--QGLLVKDTK>K<LRDNYIHTLQFKLDVASIIPTDLIYFAVDI | 240 |
| CNGA3 | DVLYVLDV-LVRARTGFLE--QGLMVSDTN>R<LWQHYKTTTQFKLDVLSLVPTDLAYLKVGT | 268 |
| CNGA4 | DLLYLLDM-VVRFHTGFLE--QGILVVDKG>R<ISSRYVRTWSFFLDLASLMPTDVVYVRLGP | 134 |
| CNGB1 | DLIYFLDITVFQTRLQFVR--GGDIITDKK>D<MRNNYLKSRRFKMDLLSLLPLDFLYLKVGV | 757 |
| CNGB3 | DIIYLYDMLFIQPRLQFVR--GGDIIVDSN>E<LRKHYRTSTKFQLDVASIIPFDICYLFFGF | 319 |
| HCN1 | DTVFLLDL-IMNFRTGTVNEDSSEIILDPK>V<IKMNYLKSW-FVVDFISSIPVDYIFLIVEK | 241 |
| HCN2 | DTFFLMDL-VLNFRTGIVIEDNTEIILDPE>K<IKKKYLRTW-FVVDFVSSIPVDYIFLIVEK | 310 |
| HCN3 | DTFFLLDL-VLNFRTGIVVEEGAEILLAPR>A<IRTRYLRTW-FLVDLISSIPVDYIFLVVEL | 192 |
| HCN4 | DTFFLIDL-VLNFRTGIVVEDNTEIILDPQ>R<IKMKYLKSW-FMVDFISSIPVDYIFLIVET | 361 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R488C | c.1462C>T | Putative Benign | rs281865155 | SIFT: deleterious Polyphen: probably damaging | |
| p.R488H | c.1463G>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging |