Paralogue Annotation for KCNH2 residue 70

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 70
Reference Amino Acid: H - Histidine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 70

No paralogue variants have been mapped to residue 70 for KCNH2.



KCNH2VI-YCNDGFCELCGYSRAEVMQRPCTCDFL>H<GPRTQRRAAAQ-IAQ---------------84
KCNH1IV-YSNDGFCKLSGYHRAEVMQKSSTCSFM>Y<GELTDKDTIEK-VRQ---------------85
KCNH3VV-YCSDGFCDLTGFSRAEVMQRGCACSFL>Y<GPDTSELVRQQ-IRK---------------85
KCNH4IV-YCSDGFCELTGYGRTEVMQKTCSCRFL>Y<GPETSEPALQR-LHK---------------85
KCNH5VV-YSNDGFCKLSGYHRADVMQKSSTCSFM>Y<GELTDKKTIEK-VRQ---------------83
KCNH6II-YCNDGFCELFGYSRVEVMQQPCTCDFL>T<GPNTPSSAVSR-LAQ---------------84
KCNH7II-YCNDGFCEMTGFSRPDVMQKPCTCDFL>H<GPETKRHDIAQ-IAQ---------------84
KCNH8IV-YCSDGFCELAGFARTEVMQKSCSCKFL>F<GVETNEQLMLQ-IEK---------------85
CNGA1-R-RMEN----------------------->-<----------G-ACS---------------40
CNGA2----NHNHHA------PPA----------->I<KANGK-DDHRT-SSR---------------37
CNGA3-KVKTSD----------------------->R<DLNRA-EN--G-LSR---------------34
CNGA4------------------------------>-<------------------------------
CNGB1VH-SITE----------------DPAQILG>H<GSTGDTGCTDE-PNE---------------145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4-----EDAEEEG-AGGRQDPSRRSIRLRPL>P<SPSPSAAAGGTESRSSALGAADSEGPARGA84
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H70Nc.208C>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: possibly 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.H70Rc.209A>G Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. J Biol Chem. 1999 274(15):10113-8. 10187793
Inherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaLQTS Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117
Inherited ArrhythmiaLQTS Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636
Inherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited 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 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-รก-go-go-related gene potassium channels. J Biol Chem. 2011 286(25):22160-9. 21536673
Inherited ArrhythmiaLQTS Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel. PLoS One. 2012 7(3):e32654. 22396785
Inherited ArrhythmiaLQTS Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429
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
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