Paralogue Annotation for KCNH2 residue 593

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 593
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 593

No paralogue variants have been mapped to residue 593 for KCNH2.



KCNH2IWYAIGNMEQPHMDSR----IGWLHNLGDQ>I<GKPYNSS----------G------------601
KCNH1IWYSIGDYEIFDEDTKTIRNNSWLYQLAMD>I<GTPYQFN--------GSG-----------S437
KCNH3VWFYIGQREIESSESELPE-IGWLQELARR>L<ETPYYLVGRRPAGGNSSGQSDNCSSSSEAN436
KCNH4IWYVIGRREMEANDPLLWD-IGWLHELGKR>L<EVPYVNG-----------------------415
KCNH5IWYSIGDYEVIDEVTNTIQIDSWLYQLALS>I<GTPYRYN--------T-S-----------A406
KCNH6IWYAIGNVERPYLEHK----IGWLDSLGVQ>L<GKRYNGS----------D-----------P453
KCNH7IWYAIGNVERPYLTDK----IGWLDSLGQQ>I<GKRYNDS----------D-----------S604
KCNH8IWYVIGKMEREDNSLLKWE-VGWLHELGKR>L<ESPYYGNN----------------------410
CNGA1VFYSISKAIGFGND-------TWVYPD--->I<NDP---------------------------340
CNGA2IYYAISKSIGFGVD-------TWVYPN--->I<TDP---------------------------315
CNGA3IYFAISKFIGFGTD-------SWVYPN--->I<SIP---------------------------343
CNGA4LYFALSRYLGFGRD-------AWVYPD--->P<AQP---------------------------209
CNGB1LYYWASAYQGLGST-------HWVYD---->-<------------------------------826
CNGB3VYYWASNYEGIGTT-------RWVYD---->-<------------------------------388
HCN1LQFLVPLLQDFPPD-------CWVS----->L<NEM---------------------------336
HCN2LQFLVPMLQDFPRN-------CWVS----->I<NGM---------------------------405
HCN3LQFLVPMLQDFPPD-------CWVS----->I<NHM---------------------------289
HCN4LQFLVPMLQDFPDD-------CWVS----->I<NNM---------------------------456
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I593Kc.1778T>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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.I593Rc.1778T>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Missense mutation in the pore region of HERG causes familial long QT syndrome. Circulation. 1996 93(10):1791-5. 8635257
Inherited ArrhythmiaLQTS Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. J Biol Chem. 1998 273(33):21061-6. 9694858
Inherited ArrhythmiaLQTS 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.I593Tc.1778T>C Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaLQTS 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.I593Vc.1777A>G Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445