Paralogue Annotation for KCNQ1 residue 626

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 626
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 626

No paralogue variants have been mapped to residue 626 for KCNQ1.



KCNQ1MLHQLLSLHGGS----------------TP>G<SGGPPREGG--------AHITQPCGSGGS-647
KCNQ2IYMQRMGIPPTE--TEAYFG--AKEPEPAP>P<YHSPEDSREH---VDRHGCIVKIVRSSSST696
KCNQ3MHMQHMERLQVQ--VTE--------YYPTK>G<TSSPAEAEK--KEDNRYSDLKTIICNYSET690
KCNQ4FYSRCLRSGTSA--SLGAVQVPLFDPDITS>D<YHSPVDHEDISVSAQTL-SISRSVSTNM--694
KCNQ5IYQQVLRKGSASALALASFQIPPFECEQTS>D<YQSPVDSKDLSGSAQNSGCLSRSTSANISR686
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1------------------------------>-<------------TLLDK-------------716
KCNB2------------------------------>-<------------SQGDR-------------766
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.G626Sc.1876G>A Inherited ArrhythmiaLQTSrs199472821SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724
Inherited 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