Paralogue Annotation for KCNQ1 residue 522

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 522
Reference Amino Acid: Y - Tyrosine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 522

No paralogue variants have been mapped to residue 522 for KCNQ1.



KCNQ1---------------IRRMQ---------->Y<FVAKKKFQQARKPYDVRDVIEQYSQGHLNL552
KCNQ2---------------VCVMR---------->F<LVSKRKFKESLRPYDVMDVIEQYSAGHLDM578
KCNQ3---------------VRILQ---------->F<RLYKKKFKETLRPYDVKDVIEQYSAGHLDM557
KCNQ4---------------IRILK---------->F<LVAKRKFKETLRPYDVKDVIEQYSAGHLDM572
KCNQ5---------------IRIMK---------->F<HVAKRKFKETLRPYDVKDVIEQYSAGHLDM560
KCNA1---------------KSKLL---------->T<D-----------------------------494
KCNA10---------------CSTEK---------->S<R-----------------------------510
KCNA2---------------ITKML---------->T<D-----------------------------498
KCNA3---------------IKKIF---------->T<D-----------------------------574
KCNA4---------------AKAVE---------->T<D-----------------------------652
KCNA5---------------LRRSLYALCLDTSRE>T<D-----------------------------612
KCNA6---------------EKRML---------->T<E-----------------------------528
KCNA7---------------GKHLV---------->T<E-----------------------------455
KCNB1---------------KVNFM---------->E<G-------DPSPLLPVLGMYHDPLRNRGSA701
KCNB2---------------KVNFK---------->E<NRGSAPQTPPSTARPLPVTTADFSLTTPQH751
KCNC1---------------P-CFL---------->L<STGEYACPPGGGMRK----------DLCKE569
KCNC2---------------ETCFL---------->L<TTGDYTCASDGGIRKG----YEKSRSLNNI604
KCNC3---------------RACFL---------->L<T--DYAPSPDGSIRKATGAPPLPPQDWRKP738
KCNC4---------------AACFL---------->L<STGDYACA-DGSVRKG----TFVLRDLPLQ617
KCND1RAIRLANSTASVS-RGSMQE---------->L<DMLA--GLRRSHAPQSRSSLNAKPHDSLDL587
KCND2-TFRIPNANVSGSHQGSIQE---------->L<STIQIRCVERTPLSNSRSSLNAKMEECVKL586
KCND3-TTHLPNSNLPATRLRSMQE---------->L<STIHIQGSEQPSLTTSRSSLNLKADDGLRP603
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.Y522Sc.1565A>C Inherited ArrhythmiaLQTSrs199472789SIFT: 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
Inherited ArrhythmiaLQTS High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. Sci Rep. 2015 5:10009. doi: 10.1038/srep10009. 26066609