Paralogue Annotation for KCNH2 residue 64

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 64
Reference Amino Acid: C - Cysteine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 64

No paralogue variants have been mapped to residue 64 for KCNH2.



KCNH2VEN-CAVI-YCNDGFCELCGYSRAEVMQRP>C<TCDFLHGPRTQRRAAAQ-IAQ---------84
KCNH1IVD-WPIV-YSNDGFCKLSGYHRAEVMQKS>S<TCSFMYGELTDKDTIEK-VRQ---------85
KCNH3VAGLFPVV-YCSDGFCDLTGFSRAEVMQRG>C<ACSFLYGPDTSELVRQQ-IRK---------85
KCNH4GTRGFPIV-YCSDGFCELTGYGRTEVMQKT>C<SCRFLYGPETSEPALQR-LHK---------85
KCNH5IVD-WPVV-YSNDGFCKLSGYHRADVMQKS>S<TCSFMYGELTDKKTIEK-VRQ---------83
KCNH6MEN-CAII-YCNDGFCELFGYSRVEVMQQP>C<TCDFLTGPNTPSSAVSR-LAQ---------84
KCNH7VQN-CAII-YCNDGFCEMTGFSRPDVMQKP>C<TCDFLHGPETKRHDIAQ-IAQ---------84
KCNH8VAKGFPIV-YCSDGFCELAGFARTEVMQKS>C<SCKFLFGVETNEQLMLQ-IEK---------85
CNGA1-------R-RMEN----------------->-<----------------G-ACS---------40
CNGA2----------NHNHHA------PPA----->-<-----IKANGK-DDHRT-SSR---------37
CNGA3-------KVKTSD----------------->-<-----RDLNRA-EN--G-LSR---------34
CNGA4------------------------------>-<------------------------------
CNGB1VIP-QPVH-SITE----------------D>P<AQILGHGSTGDTGCTDE-PNE---------145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4-----------EDAEEEG-AGGRQDPSRRS>I<RLRPLPSPSPSAAAGGTESRSSALGAADSE78
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C64Wc.192C>G 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 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
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 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.C64Yc.191G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525
Inherited ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
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 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.C64Rc.190T>C Putative BenignSIFT: deleterious
Polyphen: probably damaging