No paralogue variants have been mapped to residue 599 for KCNH2.
KCNH2 | NMEQPHMDSR----IGWLHNLGDQIGKPYN>S<S----------G------------------ | 601 |
KCNH1 | DYEIFDEDTKTIRNNSWLYQLAMDIGTPYQ>F<N--------GSG-----------S--GK-W | 440 |
KCNH3 | QREIESSESELPE-IGWLQELARRLETPYY>L<VGRRPAGGNSSGQSDNCSSSSEANGTGLEL | 442 |
KCNH4 | RREMEANDPLLWD-IGWLHELGKRLEVPYV>N<G----------------------------S | 416 |
KCNH5 | DYEVIDEVTNTIQIDSWLYQLALSIGTPYR>Y<N--------T-S-----------A--GI-W | 409 |
KCNH6 | NVERPYLEHK----IGWLDSLGVQLGKRYN>G<S----------D-----------P------ | 453 |
KCNH7 | NVERPYLTDK----IGWLDSLGQQIGKRYN>D<S----------D-----------S------ | 604 |
KCNH8 | KMEREDNSLLKWE-VGWLHELGKRLESPYY>G<NN---------------------------T | 411 |
CNGA1 | KAIGFGND-------TWVYPD---INDP-->-<------------------------------ | 340 |
CNGA2 | KSIGFGVD-------TWVYPN---ITDP-->-<------------------------------ | 315 |
CNGA3 | KFIGFGTD-------SWVYPN---ISIP-->-<------------------------------ | 343 |
CNGA4 | RYLGFGRD-------AWVYPD---PAQP-->-<------------------------------ | 209 |
CNGB1 | AYQGLGST-------HWVYD---------->-<------------------------------ | 826 |
CNGB3 | NYEGIGTT-------RWVYD---------->-<------------------------------ | 388 |
HCN1 | LLQDFPPD-------CWVS-----LNEM-->-<------------------------------ | 336 |
HCN2 | MLQDFPRN-------CWVS-----INGM-->-<------------------------------ | 405 |
HCN3 | MLQDFPPD-------CWVS-----INHM-->-<------------------------------ | 289 |
HCN4 | MLQDFPDD-------CWVS-----INNM-->-<------------------------------ | 456 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S599R | c.1797C>A | Inherited Arrhythmia | LQTS | rs199472935 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
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 |