No paralogue variants have been mapped to residue 49 for KCNH2.
| KCNH2 | -------FIIANA-RVEN-CAVI-YCNDGF>C<ELCGYSRAEVMQRPCTCDFLHGPRTQRRAA | 79 |
| KCNH1 | -------FVLGNA-QIVD-WPIV-YSNDGF>C<KLSGYHRAEVMQKSSTCSFMYGELTDKDTI | 80 |
| KCNH3 | -------FVLGNA-QVAGLFPVV-YCSDGF>C<DLTGFSRAEVMQRGCACSFLYGPDTSELVR | 80 |
| KCNH4 | -------FLLANA-QGTRGFPIV-YCSDGF>C<ELTGYGRTEVMQKTCSCRFLYGPETSEPAL | 80 |
| KCNH5 | -------FLLGNA-QIVD-WPVV-YSNDGF>C<KLSGYHRADVMQKSSTCSFMYGELTDKKTI | 78 |
| KCNH6 | -------FLIANA-QMEN-CAII-YCNDGF>C<ELFGYSRVEVMQQPCTCDFLTGPNTPSSAV | 79 |
| KCNH7 | -------FIIANA-RVQN-CAII-YCNDGF>C<EMTGFSRPDVMQKPCTCDFLHGPETKRHDI | 79 |
| KCNH8 | -------FILANA-QVAKGFPIV-YCSDGF>C<ELAGFARTEVMQKSCSCKFLFGVETNEQLM | 80 |
| CNGA1 | -----I----------------R-RMEN-->-<------------------------------ | 36 |
| CNGA2 | -------------------------NHNHH>A<------PPA-----------IKANGK-DDH | 32 |
| CNGA3 | -----L----------------KVKTSD-->-<--------------------RDLNRA-EN- | 30 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | PSRRVLTWLMKGVEKVIP-QPVH-SITE-->-<-------------DPAQILGHGSTGDTGCT | 140 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | --------------------------EDAE>E<EG-AGGRQDPSRRSIRLRPLPSPSPSAAAG | 63 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.C49Y | c.146G>A | Inherited Arrhythmia | LQTS | rs199472840 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
| p.C49R | c.145T>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 | ||
| p.Cys49Trp | c.147C>G | Unknown | SIFT: Polyphen: | ||