No paralogue variants have been mapped to residue 69 for KCNH2.
KCNH2 | AVI-YCNDGFCELCGYSRAEVMQRPCTCDF>L<HGPRTQRRAAAQ-IAQ-------------- | 84 |
KCNH1 | PIV-YSNDGFCKLSGYHRAEVMQKSSTCSF>M<YGELTDKDTIEK-VRQ-------------- | 85 |
KCNH3 | PVV-YCSDGFCDLTGFSRAEVMQRGCACSF>L<YGPDTSELVRQQ-IRK-------------- | 85 |
KCNH4 | PIV-YCSDGFCELTGYGRTEVMQKTCSCRF>L<YGPETSEPALQR-LHK-------------- | 85 |
KCNH5 | PVV-YSNDGFCKLSGYHRADVMQKSSTCSF>M<YGELTDKKTIEK-VRQ-------------- | 83 |
KCNH6 | AII-YCNDGFCELFGYSRVEVMQQPCTCDF>L<TGPNTPSSAVSR-LAQ-------------- | 84 |
KCNH7 | AII-YCNDGFCEMTGFSRPDVMQKPCTCDF>L<HGPETKRHDIAQ-IAQ-------------- | 84 |
KCNH8 | PIV-YCSDGFCELAGFARTEVMQKSCSCKF>L<FGVETNEQLMLQ-IEK-------------- | 85 |
CNGA1 | --R-RMEN---------------------->-<-----------G-ACS-------------- | 40 |
CNGA2 | -----NHNHHA------PPA---------->-<IKANGK-DDHRT-SSR-------------- | 37 |
CNGA3 | --KVKTSD---------------------->-<RDLNRA-EN--G-LSR-------------- | 34 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | PVH-SITE----------------DPAQIL>G<HGSTGDTGCTDE-PNE-------------- | 145 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------EDAEEEG-AGGRQDPSRRSIRLRP>L<PSPSPSAAAGGTESRSSALGAADSEGPARG | 83 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L69P | c.206T>C | Inherited Arrhythmia | LQTS | rs199473665 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | ||
p.L69Q | c.206T>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487 |