No paralogue variants have been mapped to residue 62 for KCNH2.
| KCNH2 | -RVEN-CAVI-YCNDGFCELCGYSRAEVMQ>R<PCTCDFLHGPRTQRRAAAQ-IAQ------- | 84 |
| KCNH1 | -QIVD-WPIV-YSNDGFCKLSGYHRAEVMQ>K<SSTCSFMYGELTDKDTIEK-VRQ------- | 85 |
| KCNH3 | -QVAGLFPVV-YCSDGFCDLTGFSRAEVMQ>R<GCACSFLYGPDTSELVRQQ-IRK------- | 85 |
| KCNH4 | -QGTRGFPIV-YCSDGFCELTGYGRTEVMQ>K<TCSCRFLYGPETSEPALQR-LHK------- | 85 |
| KCNH5 | -QIVD-WPVV-YSNDGFCKLSGYHRADVMQ>K<SSTCSFMYGELTDKKTIEK-VRQ------- | 83 |
| KCNH6 | -QMEN-CAII-YCNDGFCELFGYSRVEVMQ>Q<PCTCDFLTGPNTPSSAVSR-LAQ------- | 84 |
| KCNH7 | -RVQN-CAII-YCNDGFCEMTGFSRPDVMQ>K<PCTCDFLHGPETKRHDIAQ-IAQ------- | 84 |
| KCNH8 | -QVAKGFPIV-YCSDGFCELAGFARTEVMQ>K<SCSCKFLFGVETNEQLMLQ-IEK------- | 85 |
| CNGA1 | ---------R-RMEN--------------->-<------------------G-ACS------- | 40 |
| CNGA2 | ------------NHNHHA------PPA--->-<-------IKANGK-DDHRT-SSR------- | 37 |
| CNGA3 | ---------KVKTSD--------------->-<-------RDLNRA-EN--G-LSR------- | 34 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | EKVIP-QPVH-SITE--------------->-<DPAQILGHGSTGDTGCTDE-PNE------- | 145 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | -------------EDAEEEG-AGGRQDPSR>R<SIRLRPLPSPSPSAAAGGTESRSSALGAAD | 76 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R62Q | c.185G>A | Inherited Arrhythmia | LQTS | rs199473664 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | ||