No paralogue variants have been mapped to residue 65 for KCNH2.
| KCNH2 | EN-CAVI-YCNDGFCELCGYSRAEVMQRPC>T<CDFLHGPRTQRRAAAQ-IAQ---------- | 84 |
| KCNH1 | VD-WPIV-YSNDGFCKLSGYHRAEVMQKSS>T<CSFMYGELTDKDTIEK-VRQ---------- | 85 |
| KCNH3 | AGLFPVV-YCSDGFCDLTGFSRAEVMQRGC>A<CSFLYGPDTSELVRQQ-IRK---------- | 85 |
| KCNH4 | TRGFPIV-YCSDGFCELTGYGRTEVMQKTC>S<CRFLYGPETSEPALQR-LHK---------- | 85 |
| KCNH5 | VD-WPVV-YSNDGFCKLSGYHRADVMQKSS>T<CSFMYGELTDKKTIEK-VRQ---------- | 83 |
| KCNH6 | EN-CAII-YCNDGFCELFGYSRVEVMQQPC>T<CDFLTGPNTPSSAVSR-LAQ---------- | 84 |
| KCNH7 | QN-CAII-YCNDGFCEMTGFSRPDVMQKPC>T<CDFLHGPETKRHDIAQ-IAQ---------- | 84 |
| KCNH8 | AKGFPIV-YCSDGFCELAGFARTEVMQKSC>S<CKFLFGVETNEQLMLQ-IEK---------- | 85 |
| CNGA1 | ------R-RMEN------------------>-<---------------G-ACS---------- | 40 |
| CNGA2 | ---------NHNHHA------PPA------>-<----IKANGK-DDHRT-SSR---------- | 37 |
| CNGA3 | ------KVKTSD------------------>-<----RDLNRA-EN--G-LSR---------- | 34 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | IP-QPVH-SITE----------------DP>A<QILGHGSTGDTGCTDE-PNE---------- | 145 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | ----------EDAEEEG-AGGRQDPSRRSI>R<LRPLPSPSPSAAAGGTESRSSALGAADSEG | 79 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T65P | c.193A>C | Inherited Arrhythmia | LQTS | rs121912511 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. J Biol Chem. 2002 277(50):48610-6. 12354768 | ||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | |||
| Inherited Arrhythmia | LQTS | An NMR study of the N-terminal domain of wild-type hERG and a T65P trafficking deficient hERG mutant. Proteins. 2011 79(8):2557-65. doi: 10.1002/prot.23089. 21661061 | |||
| p.Thr65Ser | c.194C>G | Unknown | SIFT: Polyphen: | ||