Paralogue Annotation for KCNH2 residue 71

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 71
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 71

No paralogue variants have been mapped to residue 71 for KCNH2.



KCNH2I-YCNDGFCELCGYSRAEVMQRPCTCDFLH>G<PRTQRRAAAQ-IAQ----------------84
KCNH1V-YSNDGFCKLSGYHRAEVMQKSSTCSFMY>G<ELTDKDTIEK-VRQ----------------85
KCNH3V-YCSDGFCDLTGFSRAEVMQRGCACSFLY>G<PDTSELVRQQ-IRK----------------85
KCNH4V-YCSDGFCELTGYGRTEVMQKTCSCRFLY>G<PETSEPALQR-LHK----------------85
KCNH5V-YSNDGFCKLSGYHRADVMQKSSTCSFMY>G<ELTDKKTIEK-VRQ----------------83
KCNH6I-YCNDGFCELFGYSRVEVMQQPCTCDFLT>G<PNTPSSAVSR-LAQ----------------84
KCNH7I-YCNDGFCEMTGFSRPDVMQKPCTCDFLH>G<PETKRHDIAQ-IAQ----------------84
KCNH8V-YCSDGFCELAGFARTEVMQKSCSCKFLF>G<VETNEQLMLQ-IEK----------------85
CNGA1R-RMEN------------------------>-<---------G-ACS----------------40
CNGA2---NHNHHA------PPA-----------I>K<ANGK-DDHRT-SSR----------------37
CNGA3KVKTSD-----------------------R>D<LNRA-EN--G-LSR----------------34
CNGA4------------------------------>-<------------------------------
CNGB1H-SITE----------------DPAQILGH>G<STGDTGCTDE-PNE----------------145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4----EDAEEEG-AGGRQDPSRRSIRLRPLP>S<PSPSAAAGGTESRSSALGAADSEGPARGAG85
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G71Rc.211G>C Inherited ArrhythmiaLQTSrs199473420SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
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.G71Rc.211G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430
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.G71Ec.212G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430
p.G71Wc.211G>T 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