Paralogue Annotation for KCNH2 residue 50

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 50
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 50

No paralogue variants have been mapped to residue 50 for KCNH2.



KCNH2------FIIANA-RVEN-CAVI-YCNDGFC>E<LCGYSRAEVMQRPCTCDFLHGPRTQRRAAA80
KCNH1------FVLGNA-QIVD-WPIV-YSNDGFC>K<LSGYHRAEVMQKSSTCSFMYGELTDKDTIE81
KCNH3------FVLGNA-QVAGLFPVV-YCSDGFC>D<LTGFSRAEVMQRGCACSFLYGPDTSELVRQ81
KCNH4------FLLANA-QGTRGFPIV-YCSDGFC>E<LTGYGRTEVMQKTCSCRFLYGPETSEPALQ81
KCNH5------FLLGNA-QIVD-WPVV-YSNDGFC>K<LSGYHRADVMQKSSTCSFMYGELTDKKTIE79
KCNH6------FLIANA-QMEN-CAII-YCNDGFC>E<LFGYSRVEVMQQPCTCDFLTGPNTPSSAVS80
KCNH7------FIIANA-RVQN-CAII-YCNDGFC>E<MTGFSRPDVMQKPCTCDFLHGPETKRHDIA80
KCNH8------FILANA-QVAKGFPIV-YCSDGFC>E<LAGFARTEVMQKSCSCKFLFGVETNEQLML81
CNGA1----I----------------R-RMEN--->-<------------------------------36
CNGA2------------------------NHNHHA>-<-----PPA-----------IKANGK-DDHR33
CNGA3----L----------------KVKTSD--->-<-------------------RDLNRA-EN--30
CNGA4------------------------------>-<------------------------------
CNGB1SRRVLTWLMKGVEKVIP-QPVH-SITE--->-<------------DPAQILGHGSTGDTGCTD141
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4-------------------------EDAEE>E<G-AGGRQDPSRRSIRLRPLPSPSPSAAAGG64
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E50Dc.150G>T Inherited ArrhythmiaSQTSrs199472841SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaSQTS Rapid genetic testing facilitating the diagnosis of short QT syndrome. Can J Cardiol. 2009 25(4):e133-5. 19340359
p.E50Kc.148G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? Pediatr Cardiol. 2016 37(5):962-70. doi: 10.1007/s00246-016-1378-7. 27041096