Paralogue Annotation for KCNH2 residue 74

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 74
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 74

No paralogue variants have been mapped to residue 74 for KCNH2.



KCNH2CNDGFCELCGYSRAEVMQRPCTCDFLHGPR>T<QRRAAAQ-IAQ-------------------84
KCNH1SNDGFCKLSGYHRAEVMQKSSTCSFMYGEL>T<DKDTIEK-VRQ-------------------85
KCNH3CSDGFCDLTGFSRAEVMQRGCACSFLYGPD>T<SELVRQQ-IRK-------------------85
KCNH4CSDGFCELTGYGRTEVMQKTCSCRFLYGPE>T<SEPALQR-LHK-------------------85
KCNH5SNDGFCKLSGYHRADVMQKSSTCSFMYGEL>T<DKKTIEK-VRQ-------------------83
KCNH6CNDGFCELFGYSRVEVMQQPCTCDFLTGPN>T<PSSAVSR-LAQ-------------------84
KCNH7CNDGFCEMTGFSRPDVMQKPCTCDFLHGPE>T<KRHDIAQ-IAQ-------------------84
KCNH8CSDGFCELAGFARTEVMQKSCSCKFLFGVE>T<NEQLMLQ-IEK-------------------85
CNGA1MEN--------------------------->-<------G-ACS-------------------40
CNGA2NHNHHA------PPA-----------IKAN>G<K-DDHRT-SSR-------------------37
CNGA3TSD-----------------------RDLN>R<A-EN--G-LSR-------------------34
CNGA4------------------------------>-<------------------------------
CNGB1ITE----------------DPAQILGHGST>G<DTGCTDE-PNE-------------------145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4-EDAEEEG-AGGRQDPSRRSIRLRPLPSPS>P<SAAAGGTESRSSALGAADSEGPARGAGKSS88
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T74Mc.221C>T Inherited ArrhythmiaLQTSrs199473422SIFT: deleterious
Polyphen: possibly 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 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
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Putative Benign 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.T74Pc.220A>C Inherited ArrhythmiaLQTSrs199473666SIFT: deleterious
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.T74Rc.221C>G Inherited ArrhythmiaLQTSrs199473422SIFT: deleterious
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