No paralogue variants have been mapped to residue 506 for KCNH2.
| KCNH2 | -ANEEVVSHPGRIAVHYFKGW-FLIDMVAA>I<PFDLLIFGSGSEE----------------- | 519 |
| KCNH1 | -PAGEVISDPKLIRMNYLKTW-FVIDLLSC>L<PYDVINAFENVDEVSAFMGDPGKIGFADQ- | 333 |
| KCNH3 | -KSGQVVFAPKSICLHYVTTW-FLLDVIAA>L<PFDLLHAF-KVN----------------V- | 327 |
| KCNH4 | -QSGQVISAPRSIGLHYLATW-FFIDLIAA>L<PFDLLYIF-NIT----------------V- | 329 |
| KCNH5 | -PGGEVISDPKLIRMNYLKTW-FVIDLLSC>L<PYDIINAFENVDEG---------------- | 315 |
| KCNH6 | -TNDEVVSHPRRIAVHYFKGW-FLIDMVAA>I<PFDLLIFRTGSDE---------------T- | 368 |
| KCNH7 | -QNEEVVSDPAKIAIHYFKGW-FLIDMVAA>I<PFDLLIFGSGSDE---------------T- | 519 |
| KCNH8 | -KSGQVIFEARSICIHYVTTW-FIIDLIAA>L<PFDLLYAF-NVT----------------V- | 323 |
| CNGA1 | --QGLLVKEELKLINKYKSNLQFKLDVLSL>I<PTDLLYFKLGWNY----------------- | 267 |
| CNGA2 | --QGLLVKDTKKLRDNYIHTLQFKLDVASI>I<PTDLIYFAVDIHS----------------- | 242 |
| CNGA3 | --QGLMVSDTNRLWQHYKTTTQFKLDVLSL>V<PTDLAYLKVGTNY----------------- | 270 |
| CNGA4 | --QGILVVDKGRISSRYVRTWSFFLDLASL>M<PTDVVYVRLGPHT----------------- | 136 |
| CNGB1 | --GGDIITDKKDMRNNYLKSRRFKMDLLSL>L<PLDFLYLKVGVN------------------ | 758 |
| CNGB3 | --GGDIIVDSNELRKHYRTSTKFQLDVASI>I<PFDICYLFFGFN------------------ | 320 |
| HCN1 | EDSSEIILDPKVIKMNYLKSW-FVVDFISS>I<PVDYIFLIVEK--GMDSEVYKTARALR-IV | 257 |
| HCN2 | EDNTEIILDPEKIKKKYLRTW-FVVDFVSS>I<PVDYIFLIVEK--GIDSEVYKTARALR-IV | 326 |
| HCN3 | EEGAEILLAPRAIRTRYLRTW-FLVDLISS>I<PVDYIFLVVELEPRLDAEVYKTARALR-IV | 210 |
| HCN4 | EDNTEIILDPQRIKMKYLKSW-FMVDFISS>I<PVDYIFLIVET--RIDSEVYKTARALR-IV | 377 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I506N | c.1517T>A | Putative Benign | rs11538710 | SIFT: deleterious Polyphen: probably damaging | |
| p.I506V | c.1516A>G | Putative Benign | SIFT: Polyphen: |