No paralogue variants have been mapped to residue 595 for KCNH2.
| KCNH2 | YAIGNMEQPHMDSR----IGWLHNLGDQIG>K<PYNSS----------G-------------- | 601 |
| KCNH1 | YSIGDYEIFDEDTKTIRNNSWLYQLAMDIG>T<PYQFN--------GSG-----------S-- | 437 |
| KCNH3 | FYIGQREIESSESELPE-IGWLQELARRLE>T<PYYLVGRRPAGGNSSGQSDNCSSSSEANGT | 438 |
| KCNH4 | YVIGRREMEANDPLLWD-IGWLHELGKRLE>V<PYVNG------------------------- | 415 |
| KCNH5 | YSIGDYEVIDEVTNTIQIDSWLYQLALSIG>T<PYRYN--------T-S-----------A-- | 406 |
| KCNH6 | YAIGNVERPYLEHK----IGWLDSLGVQLG>K<RYNGS----------D-----------P-- | 453 |
| KCNH7 | YAIGNVERPYLTDK----IGWLDSLGQQIG>K<RYNDS----------D-----------S-- | 604 |
| KCNH8 | YVIGKMEREDNSLLKWE-VGWLHELGKRLE>S<PYYGNN------------------------ | 410 |
| CNGA1 | YSISKAIGFGND-------TWVYPD---IN>D<P----------------------------- | 340 |
| CNGA2 | YAISKSIGFGVD-------TWVYPN---IT>D<P----------------------------- | 315 |
| CNGA3 | FAISKFIGFGTD-------SWVYPN---IS>I<P----------------------------- | 343 |
| CNGA4 | FALSRYLGFGRD-------AWVYPD---PA>Q<P----------------------------- | 209 |
| CNGB1 | YWASAYQGLGST-------HWVYD------>-<------------------------------ | 826 |
| CNGB3 | YWASNYEGIGTT-------RWVYD------>-<------------------------------ | 388 |
| HCN1 | FLVPLLQDFPPD-------CWVS-----LN>E<M----------------------------- | 336 |
| HCN2 | FLVPMLQDFPRN-------CWVS-----IN>G<M----------------------------- | 405 |
| HCN3 | FLVPMLQDFPPD-------CWVS-----IN>H<M----------------------------- | 289 |
| HCN4 | FLVPMLQDFPDD-------CWVS-----IN>N<M----------------------------- | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K595E | c.1783A>G | Inherited Arrhythmia | LQTS | rs199472932 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | ||
| Inherited Arrhythmia | LQTS | Adrenergic regulation of the rapid component of delayed rectifier K+ current: implications for arrhythmogenesis in LQT2 patients. Heart Rhythm. 2009 6(7):1038-46. 19419905 | |||
| p.K595N | c.1785A>T | Inherited Arrhythmia | LQTS | rs199473521 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013 | ||