No paralogue variants have been mapped to residue 47 for KCNH2.
KCNH2 | ---------FIIANA-RVEN-CAVI-YCND>G<FCELCGYSRAEVMQRPCTCDFLHGPRTQRR | 77 |
KCNH1 | ---------FVLGNA-QIVD-WPIV-YSND>G<FCKLSGYHRAEVMQKSSTCSFMYGELTDKD | 78 |
KCNH3 | ---------FVLGNA-QVAGLFPVV-YCSD>G<FCDLTGFSRAEVMQRGCACSFLYGPDTSEL | 78 |
KCNH4 | ---------FLLANA-QGTRGFPIV-YCSD>G<FCELTGYGRTEVMQKTCSCRFLYGPETSEP | 78 |
KCNH5 | ---------FLLGNA-QIVD-WPVV-YSND>G<FCKLSGYHRADVMQKSSTCSFMYGELTDKK | 76 |
KCNH6 | ---------FLIANA-QMEN-CAII-YCND>G<FCELFGYSRVEVMQQPCTCDFLTGPNTPSS | 77 |
KCNH7 | ---------FIIANA-RVQN-CAII-YCND>G<FCEMTGFSRPDVMQKPCTCDFLHGPETKRH | 77 |
KCNH8 | ---------FILANA-QVAKGFPIV-YCSD>G<FCELAGFARTEVMQKSCSCKFLFGVETNEQ | 78 |
CNGA1 | -------I----------------R-RMEN>-<------------------------------ | 36 |
CNGA2 | ---------------------------NHN>H<HA------PPA-----------IKANGK-D | 30 |
CNGA3 | -------L----------------KVKTSD>-<----------------------RDLNRA-E | 29 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | NSPSRRVLTWLMKGVEKVIP-QPVH-SITE>-<---------------DPAQILGHGSTGDTG | 138 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ----------------------------ED>A<EEEG-AGGRQDPSRRSIRLRPLPSPSPSAA | 61 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G47V | c.140G>T | Inherited Arrhythmia | LQTS | rs199473490 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
Inherited Arrhythmia | LQTS | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
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.G47D | c.140G>A | 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 | ||
p.Gly47Cys | c.139G>T | Unknown | SIFT: Polyphen: |