Paralogue Annotation for KCNQ1 residue 584

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 584
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 584

No paralogue variants have been mapped to residue 584 for KCNQ1.



KCNQ1-----V-----------------SEKSKDR>G<SNTIGARLNRVEDKVTQLDQRLALITDMLH614
KCNQ2-T--KG-----------------PAEAELP>E<DPSMMGRLGKVEKQVLSMEKKLDFLVNIYM645
KCNQ3SQKGSAFTFPSQQSPRNEPYVARPSTSEI->E<DQSMMGKFVKVERQVQDMGKKLDFLVDMHM644
KCNQ4-D--KG-----------------PSDAEVV>D<EISMMGRVVKVEKQVQSIEHKLDLLLGFYS641
KCNQ5-E--KI-----------------TAEHETT>D<DLSMLGRVVKVEKQVQSIESKLDCLLDIYQ628
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1------------------------------>-<------------------------------
KCNB2------------------------------>-<------------------------------
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1------------------------------>-<------------------------------
KCND2------------------------------>-<------------------------------
KCND3------------------------------>-<------------------------------
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3------------------------------>-<------------------------------
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G584Sc.1750G>A Inherited ArrhythmiaLQTSrs199472811SIFT: tolerated
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol. 2007 49(2):240-6. 17222736
Inherited ArrhythmiaLQTS Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012 87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017. 22677073
Other Cardiac Phenotype Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young. Circ Cardiovasc Genet. 2016 9(3):259-65. doi: 10.1161/CIRCGENETICS.115.001370. 27114410
Other Cardiac Phenotype Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594