Paralogue Annotation for KCNQ1 residue 576

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 576
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 576

No paralogue variants have been mapped to residue 576 for KCNQ1.



KCNQ1KELQRRLDQSIGKPSLFIS----------->V<-----------------SEKSKDRGSNTIG589
KCNQ2KSLQSRVDQIVGRGPAITD--KDR--T--K>G<-----------------PAEAELPEDPSMM620
KCNQ3KYLQTRIDMIFTPGPPSTP--KHKKSQKGS>A<FTFPSQQSPRNEPYVARPSTSEI-EDQSMM619
KCNQ4KSLQTRVDQIVGRGPGDRKAREKG--D--K>G<-----------------PSDAEVVDEISMM616
KCNQ5KSLQTRVDQILGKGQITSD-KKSR--E--K>I<-----------------TAEHETTDDLSML603
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1AGLECA------------------------>-<------------------------------711
KCNB2LLEETP------------------------>-<------------------------------761
KCNC1-VIAKY------------------------>-<------------------------------576
KCNC2GNALRL------------------------>-<------------------------------614
KCNC3-FLPDL------------------------>-<------------------------------747
KCNC4--EAAC------------------------>-<------------------------------624
KCND1RDFVAA------------------------>-<------------------------------597
KCND2PYVTTA------------------------>-<------------------------------596
KCND3SQITTA------------------------>-<------------------------------613
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.V576Ic.1726G>A Inherited ArrhythmiaLQTS,JLNSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487
Inherited ArrhythmiaJLNS Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet. 2013 6(2):193-200. doi: 10.1161/CIRCGENETICS.112.964684 23392653