No paralogue variants have been mapped to residue 27 for KCNH2.
| KCNH2 | -G-HVAPQNTFLDTI---IR----KFEGQS>R<K-----------FIIANA-RVEN-CAVI-Y | 43 |
| KCNH1 | -G-LVAPQNTFLENI---VR----RS--ND>T<N-----------FVLGNA-QIVD-WPIV-Y | 44 |
| KCNH3 | -G-LLAPQNTFLDTI---AT----RFDGTH>S<N-----------FVLGNA-QVAGLFPVV-Y | 44 |
| KCNH4 | -G-LLAPQNTFLDTI---AT----RFDGTH>S<N-----------FLLANA-QGTRGFPIV-Y | 44 |
| KCNH5 | -G-LVAPQNTFLENI---VR----RS--SE>S<S-----------FLLGNA-QIVD-WPVV-Y | 42 |
| KCNH6 | -G-HVAPQNTYLDTI---IR----KFEGQS>R<K-----------FLIANA-QMEN-CAII-Y | 43 |
| KCNH7 | -G-HVAPQNTFLGTI---IR----KFEGQN>K<K-----------FIIANA-RVQN-CAII-Y | 43 |
| KCNH8 | -G-LLAPQNTFLDTI---AT----RFDGTH>S<N-----------FILANA-QVAKGFPIV-Y | 44 |
| CNGA1 | -NNIINTQQSFVTMPNVIVP----DIEKE->-<----------I----------------R-R | 33 |
| CNGA2 | ----TNGVK--------SSP----AN---->-<------------------------------ | 14 |
| CNGA3 | ----INTQY--------SHP----SRTH-->-<----------L----------------KVK | 19 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | --ADPSPQETKEAAL---TSTISLRAQGAE>I<SEMNSPSRRVLTWLMKGVEKVIP-QPVH-S | 120 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | -------------------------GKPNS>-<------------------------------ | 9 |
| HCN2 | ------------RG-----G----GGRPGE>-<------------------------------ | 12 |
| HCN3 | -------------------------QRPAA>-<------------------------------ | 9 |
| HCN4 | RKRLYSLPQQVGAK-----A----WIMDEE>-<------------------------------ | 29 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R27P | c.80G>C | Inherited Arrhythmia | LQTS | rs199472828 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||
| p.Arg27His | c.80G>A | Unknown | SIFT: Polyphen: | ||