Paralogue Annotation for KCNH2 residue 47

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 47
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 47

No paralogue variants have been mapped to residue 47 for KCNH2.



KCNH2---------FIIANA-RVEN-CAVI-YCND>G<FCELCGYSRAEVMQRPCTCDFLHGPRTQRR77
KCNH1---------FVLGNA-QIVD-WPIV-YSND>G<FCKLSGYHRAEVMQKSSTCSFMYGELTDKD78
KCNH3---------FVLGNA-QVAGLFPVV-YCSD>G<FCDLTGFSRAEVMQRGCACSFLYGPDTSEL78
KCNH4---------FLLANA-QGTRGFPIV-YCSD>G<FCELTGYGRTEVMQKTCSCRFLYGPETSEP78
KCNH5---------FLLGNA-QIVD-WPVV-YSND>G<FCKLSGYHRADVMQKSSTCSFMYGELTDKK76
KCNH6---------FLIANA-QMEN-CAII-YCND>G<FCELFGYSRVEVMQQPCTCDFLTGPNTPSS77
KCNH7---------FIIANA-RVQN-CAII-YCND>G<FCEMTGFSRPDVMQKPCTCDFLHGPETKRH77
KCNH8---------FILANA-QVAKGFPIV-YCSD>G<FCELAGFARTEVMQKSCSCKFLFGVETNEQ78
CNGA1-------I----------------R-RMEN>-<------------------------------36
CNGA2---------------------------NHN>H<HA------PPA-----------IKANGK-D30
CNGA3-------L----------------KVKTSD>-<----------------------RDLNRA-E29
CNGA4------------------------------>-<------------------------------
CNGB1NSPSRRVLTWLMKGVEKVIP-QPVH-SITE>-<---------------DPAQILGHGSTGDTG138
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4----------------------------ED>A<EEEG-AGGRQDPSRRSIRLRPLPSPSPSAA61
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G47Vc.140G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaLQTS Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117
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.G47Dc.140G>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.Gly47Cysc.139G>T UnknownSIFT:
Polyphen: