Paralogue Annotation for KCNH2 residue 45

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 45
Reference Amino Acid: N - Asparagine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 45

No paralogue variants have been mapped to residue 45 for KCNH2.



KCNH2-----------FIIANA-RVEN-CAVI-YC>N<DGFCELCGYSRAEVMQRPCTCDFLHGPRTQ75
KCNH1-----------FVLGNA-QIVD-WPIV-YS>N<DGFCKLSGYHRAEVMQKSSTCSFMYGELTD76
KCNH3-----------FVLGNA-QVAGLFPVV-YC>S<DGFCDLTGFSRAEVMQRGCACSFLYGPDTS76
KCNH4-----------FLLANA-QGTRGFPIV-YC>S<DGFCELTGYGRTEVMQKTCSCRFLYGPETS76
KCNH5-----------FLLGNA-QIVD-WPVV-YS>N<DGFCKLSGYHRADVMQKSSTCSFMYGELTD74
KCNH6-----------FLIANA-QMEN-CAII-YC>N<DGFCELFGYSRVEVMQQPCTCDFLTGPNTP75
KCNH7-----------FIIANA-RVQN-CAII-YC>N<DGFCEMTGFSRPDVMQKPCTCDFLHGPETK75
KCNH8-----------FILANA-QVAKGFPIV-YC>S<DGFCELAGFARTEVMQKSCSCKFLFGVETN76
CNGA1---------I----------------R-RM>E<N-----------------------------36
CNGA2-----------------------------N>H<NHHA------PPA-----------IKANGK29
CNGA3---------L----------------KVKT>S<D-----------------------RDLNRA28
CNGA4------------------------------>-<------------------------------
CNGB1EMNSPSRRVLTWLMKGVEKVIP-QPVH-SI>T<E----------------DPAQILGHGSTGD136
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>E<DAEEEG-AGGRQDPSRRSIRLRPLPSPSPS59
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N45Yc.133A>T Inherited ArrhythmiaLQTSrs199472839SIFT: 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.N45Dc.133A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS A case of long QT syndrome with triple gene abnormalities: digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1. Heart Rhythm. 2013 10(4):600-3. doi: 10.1016/j.hrthm.2012.12.008. 23237912
p.N45Sc.134A>G 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.N45Kc.135C>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661