No paralogue variants have been mapped to residue 593 for KCNH2.
| KCNH2 | IWYAIGNMEQPHMDSR----IGWLHNLGDQ>I<GKPYNSS----------G------------ | 601 |
| KCNH1 | IWYSIGDYEIFDEDTKTIRNNSWLYQLAMD>I<GTPYQFN--------GSG-----------S | 437 |
| KCNH3 | VWFYIGQREIESSESELPE-IGWLQELARR>L<ETPYYLVGRRPAGGNSSGQSDNCSSSSEAN | 436 |
| KCNH4 | IWYVIGRREMEANDPLLWD-IGWLHELGKR>L<EVPYVNG----------------------- | 415 |
| KCNH5 | IWYSIGDYEVIDEVTNTIQIDSWLYQLALS>I<GTPYRYN--------T-S-----------A | 406 |
| KCNH6 | IWYAIGNVERPYLEHK----IGWLDSLGVQ>L<GKRYNGS----------D-----------P | 453 |
| KCNH7 | IWYAIGNVERPYLTDK----IGWLDSLGQQ>I<GKRYNDS----------D-----------S | 604 |
| KCNH8 | IWYVIGKMEREDNSLLKWE-VGWLHELGKR>L<ESPYYGNN---------------------- | 410 |
| CNGA1 | VFYSISKAIGFGND-------TWVYPD--->I<NDP--------------------------- | 340 |
| CNGA2 | IYYAISKSIGFGVD-------TWVYPN--->I<TDP--------------------------- | 315 |
| CNGA3 | IYFAISKFIGFGTD-------SWVYPN--->I<SIP--------------------------- | 343 |
| CNGA4 | LYFALSRYLGFGRD-------AWVYPD--->P<AQP--------------------------- | 209 |
| CNGB1 | LYYWASAYQGLGST-------HWVYD---->-<------------------------------ | 826 |
| CNGB3 | VYYWASNYEGIGTT-------RWVYD---->-<------------------------------ | 388 |
| HCN1 | LQFLVPLLQDFPPD-------CWVS----->L<NEM--------------------------- | 336 |
| HCN2 | LQFLVPMLQDFPRN-------CWVS----->I<NGM--------------------------- | 405 |
| HCN3 | LQFLVPMLQDFPPD-------CWVS----->I<NHM--------------------------- | 289 |
| HCN4 | LQFLVPMLQDFPDD-------CWVS----->I<NNM--------------------------- | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I593K | c.1778T>A | Inherited Arrhythmia | LQTS | rs28928904 | SIFT: deleterious Polyphen: probably damaging |
| 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 | |||
| p.I593R | c.1778T>G | Inherited Arrhythmia | LQTS | rs28928904 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Missense mutation in the pore region of HERG causes familial long QT syndrome. Circulation. 1996 93(10):1791-5. 8635257 | ||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | |||
| Inherited Arrhythmia | LQTS | HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. J Biol Chem. 1998 273(33):21061-6. 9694858 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| p.I593T | c.1778T>C | Inherited Arrhythmia | LQTS | rs28928904 | SIFT: tolerated Polyphen: benign |
| 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 | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | |||
| p.I593V | c.1777A>G | Inherited Arrhythmia | LQTS | rs199472930 | 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 | ||