Paralogue Annotation for KCNH2 residue 44

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 44
Reference Amino Acid: C - Cysteine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 44

No paralogue variants have been mapped to residue 44 for KCNH2.



KCNH2K-----------FIIANA-RVEN-CAVI-Y>C<NDGFCELCGYSRAEVMQRPCTCDFLHGPRT74
KCNH1N-----------FVLGNA-QIVD-WPIV-Y>S<NDGFCKLSGYHRAEVMQKSSTCSFMYGELT75
KCNH3N-----------FVLGNA-QVAGLFPVV-Y>C<SDGFCDLTGFSRAEVMQRGCACSFLYGPDT75
KCNH4N-----------FLLANA-QGTRGFPIV-Y>C<SDGFCELTGYGRTEVMQKTCSCRFLYGPET75
KCNH5S-----------FLLGNA-QIVD-WPVV-Y>S<NDGFCKLSGYHRADVMQKSSTCSFMYGELT73
KCNH6K-----------FLIANA-QMEN-CAII-Y>C<NDGFCELFGYSRVEVMQQPCTCDFLTGPNT74
KCNH7K-----------FIIANA-RVQN-CAII-Y>C<NDGFCEMTGFSRPDVMQKPCTCDFLHGPET74
KCNH8N-----------FILANA-QVAKGFPIV-Y>C<SDGFCELAGFARTEVMQKSCSCKFLFGVET75
CNGA1----------I----------------R-R>M<EN----------------------------36
CNGA2------------------------------>N<HNHHA------PPA-----------IKANG28
CNGA3----------L----------------KVK>T<SD-----------------------RDLNR27
CNGA4------------------------------>-<------------------------------
CNGB1SEMNSPSRRVLTWLMKGVEKVIP-QPVH-S>I<TE----------------DPAQILGHGSTG135
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<EDAEEEG-AGGRQDPSRRSIRLRPLPSPSP58
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C44Fc.131G>T Inherited ArrhythmiaLQTSrs199473489SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472
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.C44Wc.132C>G Inherited ArrhythmiaLQTSrs199472838SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041
p.C44Yc.131G>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.C44Gc.130T>G 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