No paralogue variants have been mapped to residue 541 for KCNH2.
| KCNH2 | ---------LIGLLKTARLLRLVRVARKLD>R<Y-----SEYGAAV-LFLLMCTFALIAHWLA | 565 |
| KCNH1 | GRESQGISSLFSSLKVVRLLRLGRVARKLD>H<Y-----IEYGAAV-LVLLVCVFGLAAHWMA | 394 |
| KCNH3 | --------FGAHLLKTVRLLRLLRLLPRLD>R<Y-----SQYSAVV-LTLLMAVFALLAHWVA | 375 |
| KCNH4 | --------SLVHLLKTVRLLRLLRLLQKLE>R<Y-----SQCSAVV-LTLLMSVFALLAHWMA | 377 |
| KCNH5 | ------ISSLFSSLKVVRLLRLGRVARKLD>H<Y-----LEYGAAV-LVLLVCVFGLVAHWLA | 364 |
| KCNH6 | --------TLIGLLKTARLLRLVRVARKLD>R<Y-----SEYGAAV-LFLLMCTFALIAHWLA | 416 |
| KCNH7 | --------TLIGLLKTARLLRLVRVARKLD>R<Y-----SEYGAAV-LMLLMCIFALIAHWLA | 567 |
| KCNH8 | --------SLVHLLKTVRLLRLLRLLQKLD>R<Y-----SQHSTIV-LTLLMSMFALLAHWMA | 371 |
| CNGA1 | --------PEIRLNRLLRFSRMFEFFQRTE>T<R-----TNYPNIFRISNLVMYIVIIIHWNA | 315 |
| CNGA2 | --------PEVRFNRLLHFARMFEFFDRTE>T<R-----TNYPNIFRISNLVLYILVIIHWNA | 290 |
| CNGA3 | --------PEVRFNRLLKFSRLFEFFDRTE>T<R-----TNYPNMFRIGNLVLYILIIIHWNA | 318 |
| CNGA4 | --------PTLRLNRFLRAPRLFEAFDRTE>T<R-----TAYPNAFRIAKLMLYIFVVIHWNS | 184 |
| CNGB1 | --------PLLRLPRCLKYMAFFEFNSRLE>S<I-----LSKAYVYRVIRTTAYLLYSLHLNS | 806 |
| CNGB3 | --------PMFRANRMLKYTSFFEFNHHLE>S<I-----MDKAYIYRVIRTTGYLLFILHINA | 368 |
| HCN1 | --------KILSLLRLLRLSRLIRYIHQWE>E<IFHMTYDLASAVVRIFNLIGMMLLLCHWDG | 313 |
| HCN2 | --------KILSLLRLLRLSRLIRYIHQWE>E<IFHMTYDLASAVMRICNLISMMLLLCHWDG | 382 |
| HCN3 | --------KILSLLRLLRLSRLIRYIHQWE>E<IFHMTYDLASAVVRIFNLIGMMLLLCHWDG | 266 |
| HCN4 | --------KILSLLRLLRLSRLIRYIHQWE>E<IFHMTYDLASAVVRIVNLIGMMLLLCHWDG | 433 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R541C | c.1621C>T | Putative Benign | SIFT: Polyphen: |