Paralogue Annotation for KCNH2 residue 72

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 72
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 72

No paralogue variants have been mapped to residue 72 for KCNH2.



KCNH2-YCNDGFCELCGYSRAEVMQRPCTCDFLHG>P<RTQRRAAAQ-IAQ-----------------84
KCNH1-YSNDGFCKLSGYHRAEVMQKSSTCSFMYG>E<LTDKDTIEK-VRQ-----------------85
KCNH3-YCSDGFCDLTGFSRAEVMQRGCACSFLYG>P<DTSELVRQQ-IRK-----------------85
KCNH4-YCSDGFCELTGYGRTEVMQKTCSCRFLYG>P<ETSEPALQR-LHK-----------------85
KCNH5-YSNDGFCKLSGYHRADVMQKSSTCSFMYG>E<LTDKKTIEK-VRQ-----------------83
KCNH6-YCNDGFCELFGYSRVEVMQQPCTCDFLTG>P<NTPSSAVSR-LAQ-----------------84
KCNH7-YCNDGFCEMTGFSRPDVMQKPCTCDFLHG>P<ETKRHDIAQ-IAQ-----------------84
KCNH8-YCSDGFCELAGFARTEVMQKSCSCKFLFG>V<ETNEQLMLQ-IEK-----------------85
CNGA1-RMEN------------------------->-<--------G-ACS-----------------40
CNGA2--NHNHHA------PPA-----------IK>A<NGK-DDHRT-SSR-----------------37
CNGA3VKTSD-----------------------RD>L<NRA-EN--G-LSR-----------------34
CNGA4------------------------------>-<------------------------------
CNGB1-SITE----------------DPAQILGHG>S<TGDTGCTDE-PNE-----------------145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4---EDAEEEG-AGGRQDPSRRSIRLRPLPS>P<SPSAAAGGTESRSSALGAADSEGPARGAGK86
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P72Lc.215C>T Inherited ArrhythmiaLQTSrs199473421SIFT: 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.P72Qc.215C>A Inherited ArrhythmiaLQTSrs199473421SIFT: tolerated
Polyphen: possibly damaging
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 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 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.P72Rc.215C>G Inherited ArrhythmiaLQTSrs199473421SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Gene symbol: KCNH2. Disease: Long QT syndrome. Hum Genet. 2008 123(5):541. 20960616
Inherited ArrhythmiaLQTS Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531
p.P72Tc.214C>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715
p.Pro72Serc.214C>T UnknownSIFT:
Polyphen: