No paralogue variants have been mapped to residue 19 for KCNH2.
| KCNH2 | -------RR----G-HVAPQNTFLDTI--->I<R----KFEGQSRK-----------FIIANA | 34 |
| KCNH1 | -------RR----G-LVAPQNTFLENI--->V<R----RS--NDTN-----------FVLGNA | 35 |
| KCNH3 | -------MR----G-LLAPQNTFLDTI--->A<T----RFDGTHSN-----------FVLGNA | 34 |
| KCNH4 | -------MK----G-LLAPQNTFLDTI--->A<T----RFDGTHSN-----------FLLANA | 34 |
| KCNH5 | -------KR----G-LVAPQNTFLENI--->V<R----RS--SESS-----------FLLGNA | 33 |
| KCNH6 | -------RR----G-HVAPQNTYLDTI--->I<R----KFEGQSRK-----------FLIANA | 34 |
| KCNH7 | -------RR----G-HVAPQNTFLGTI--->I<R----KFEGQNKK-----------FIIANA | 34 |
| KCNH8 | -------MK----G-LLAPQNTFLDTI--->A<T----RFDGTHSN-----------FILANA | 34 |
| CNGA1 | -------SMK---NNIINTQQSFVTMPNVI>V<P----DIEKE------------I------- | 31 |
| CNGA2 | -------K--------TNGVK--------S>S<P----AN----------------------- | 14 |
| CNGA3 | ----------------INTQY--------S>H<P----SRTH-------------L------- | 16 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | SFKEEEVAV-----ADPSPQETKEAAL--->T<STISLRAQGAEISEMNSPSRRVLTWLMKGV | 110 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | -------G---------------------->-<------GKPNS------------------- | 9 |
| HCN2 | ------------------------RG---->-<G----GGRPGE------------------- | 12 |
| HCN3 | -------E---------------------->-<------QRPAA------------------- | 9 |
| HCN4 | -------LPPSMRKRLYSLPQQVGAK---->-<A----WIMDEE------------------- | 29 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I19T | c.56T>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||