No paralogue variants have been mapped to residue 502 for KCNH2.
| KCNH2 | TYVN-ANEEVVSHPGRIAVHYFKGW-FLID>M<VAAIPFDLLIFGSGSEE------------- | 519 |
| KCNH1 | TFVG-PAGEVISDPKLIRMNYLKTW-FVID>L<LSCLPYDVINAFENVDEVSAFMGDPGKIGF | 330 |
| KCNH3 | TFVS-KSGQVVFAPKSICLHYVTTW-FLLD>V<IAALPFDLLHAF-KVN-------------- | 326 |
| KCNH4 | TYVS-QSGQVISAPRSIGLHYLATW-FFID>L<IAALPFDLLYIF-NIT-------------- | 328 |
| KCNH5 | TFVG-PGGEVISDPKLIRMNYLKTW-FVID>L<LSCLPYDIINAFENVDEG------------ | 315 |
| KCNH6 | TYVN-TNDEVVSHPRRIAVHYFKGW-FLID>M<VAAIPFDLLIFRTGSDE------------- | 367 |
| KCNH7 | TYVN-QNEEVVSDPAKIAIHYFKGW-FLID>M<VAAIPFDLLIFGSGSDE------------- | 518 |
| KCNH8 | TYVS-KSGQVIFEARSICIHYVTTW-FIID>L<IAALPFDLLYAF-NVT-------------- | 322 |
| CNGA1 | GYLE--QGLLVKEELKLINKYKSNLQFKLD>V<LSLIPTDLLYFKLGWNY------------- | 267 |
| CNGA2 | GFLE--QGLLVKDTKKLRDNYIHTLQFKLD>V<ASIIPTDLIYFAVDIHS------------- | 242 |
| CNGA3 | GFLE--QGLMVSDTNRLWQHYKTTTQFKLD>V<LSLVPTDLAYLKVGTNY------------- | 270 |
| CNGA4 | GFLE--QGILVVDKGRISSRYVRTWSFFLD>L<ASLMPTDVVYVRLGPHT------------- | 136 |
| CNGB1 | QFVR--GGDIITDKKDMRNNYLKSRRFKMD>L<LSLLPLDFLYLKVGVN-------------- | 758 |
| CNGB3 | QFVR--GGDIIVDSNELRKHYRTSTKFQLD>V<ASIIPFDICYLFFGFN-------------- | 320 |
| HCN1 | GTVNEDSSEIILDPKVIKMNYLKSW-FVVD>F<ISSIPVDYIFLIVEK--GMDSEVYKTARAL | 254 |
| HCN2 | GIVIEDNTEIILDPEKIKKKYLRTW-FVVD>F<VSSIPVDYIFLIVEK--GIDSEVYKTARAL | 323 |
| HCN3 | GIVVEEGAEILLAPRAIRTRYLRTW-FLVD>L<ISSIPVDYIFLVVELEPRLDAEVYKTARAL | 207 |
| HCN4 | GIVVEDNTEIILDPQRIKMKYLKSW-FMVD>F<ISSIPVDYIFLIVET--RIDSEVYKTARAL | 374 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M502I | c.1506G>T | Putative Benign | SIFT: Polyphen: |