Paralogue Annotation for KCNQ1 residue 596

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 596
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 596

No paralogue variants have been mapped to residue 596 for KCNQ1.



KCNQ1-----------SEKSKDRGSNTIGARLNRV>E<DKVTQLDQRLALITDMLHQLLSLHGGS---623
KCNQ2-----------PAEAELPEDPSMMGRLGKV>E<KQVLSMEKKLDFLVNIYMQRMGIPPTE--T655
KCNQ3QSPRNEPYVARPSTSEI-EDQSMMGKFVKV>E<RQVQDMGKKLDFLVDMHMQHMERLQVQ--V654
KCNQ4-----------PSDAEVVDEISMMGRVVKV>E<KQVQSIEHKLDLLLGFYSRCLRSGTSA--S651
KCNQ5-----------TAEHETTDDLSMLGRVVKV>E<KQVQSIESKLDCLLDIYQQVLRKGSASALA640
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.E596Kc.1786G>A Inherited ArrhythmiaLQTSrs199472816SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
p.Glu596Glyc.1787A>G UnknownSIFT:
Polyphen: