Paralogue Annotation for KCNQ1 residue 635

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 635
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 635

No paralogue variants have been mapped to residue 635 for KCNQ1.



KCNQ1GGS----------------TPGSGGPPREG>G<--------AHITQPCGSGGS----------647
KCNQ2PTE--TEAYFG--AKEPEPAPPYHSPEDSR>E<H---VDRHGCIVKIVRSSSSTGQ-------698
KCNQ3QVQ--VTE--------YYPTKGTSSPAEAE>K<--KEDNRYSDLKTIICNYSETGPPEPP---696
KCNQ4TSA--SLGAVQVPLFDPDITSDYHSPVDHE>D<ISVSAQTL-SISRSVSTNM-----------694
KCNQ5SASALALASFQIPPFECEQTSDYQSPVDSK>D<LSGSAQNSGCLSRSTSANISRGLQFILTPN695
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1------------------------------>-<---TLLDK------------------AVLS720
KCNB2------------------------------>-<---SQGDR------------------PLLG770
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.G635Rc.1903G>A Inherited ArrhythmiaLQTSrs199473484SIFT: tolerated
Polyphen: benign
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
Unknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510