No paralogue variants have been mapped to residue 35 for KCNH2.
KCNH2 | ----KFEGQSRK-----------FIIANA->R<VEN-CAVI-YCNDGFCELCGYSRAEVMQRP | 63 |
KCNH1 | ----RS--NDTN-----------FVLGNA->Q<IVD-WPIV-YSNDGFCKLSGYHRAEVMQKS | 64 |
KCNH3 | ----RFDGTHSN-----------FVLGNA->Q<VAGLFPVV-YCSDGFCDLTGFSRAEVMQRG | 64 |
KCNH4 | ----RFDGTHSN-----------FLLANA->Q<GTRGFPIV-YCSDGFCELTGYGRTEVMQKT | 64 |
KCNH5 | ----RS--SESS-----------FLLGNA->Q<IVD-WPVV-YSNDGFCKLSGYHRADVMQKS | 62 |
KCNH6 | ----KFEGQSRK-----------FLIANA->Q<MEN-CAII-YCNDGFCELFGYSRVEVMQQP | 63 |
KCNH7 | ----KFEGQNKK-----------FIIANA->R<VQN-CAII-YCNDGFCEMTGFSRPDVMQKP | 63 |
KCNH8 | ----RFDGTHSN-----------FILANA->Q<VAKGFPIV-YCSDGFCELAGFARTEVMQKS | 64 |
CNGA1 | ----DIEKE------------I-------->-<-------R-RMEN----------------- | 36 |
CNGA2 | ----AN------------------------>-<----------NHNHHA------PPA----- | 23 |
CNGA3 | ----SRTH-------------L-------->-<-------KVKTSD----------------- | 22 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | TISLRAQGAEISEMNSPSRRVLTWLMKGVE>K<VIP-QPVH-SITE----------------D | 124 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | -----GKPNS-------------------->-<------------------------------ | 9 |
HCN2 | ----GGRPGE-------------------->-<------------------------------ | 12 |
HCN3 | -----QRPAA-------------------->-<------------------------------ | 9 |
HCN4 | ----WIMDEE-------------------->-<-----------EDAEEEG-AGGRQDPSRRS | 47 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R35W | c.103C>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||
Inherited Arrhythmia | LQTS | High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. Sci Rep. 2015 5:10009. doi: 10.1038/srep10009. 26066609 |