Paralogue Annotation for KCNQ1 residue 511

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 511
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 511

No paralogue variants have been mapped to residue 511 for KCNQ1.



KCNQ1---------------LLTPITHISQLREHH>R<ATIKV----------------IRRMQ----521
KCNQ2---------------SCPCEFVTEDLTPGL>K<VSIRA----------------VCVMR----547
KCNQ3---------------GYGNDFPIEDMIPTL>K<AAIRA----------------VRILQ----526
KCNQ4---------------SYQCELTVDDIMPAV>K<TVIRS----------------IRILK----541
KCNQ5---------------GCQCDVSVEDLTPPL>K<TVIRA----------------IRIMK----529
KCNA1-----------------TAN----CTTAN->-<QNCVN----------------KSKLL----492
KCNA10------------------------------>-<----G----------------CSTEK----508
KCNA2-----------------TAN----CTLAN->-<TNYVN----------------ITKML----496
KCNA3-----------------TAT----CTTNNN>P<NSCVN----------------IKKIF----572
KCNA4-----------------GDD----SETDK->-<NNCSN----------------AKAVE----650
KCNA5------------------------------>-<---------------------LRRSLYALC604
KCNA6-------------------------P---->-<HRAYA----------------EKRML----526
KCNA7------------------------------>-<LWAPP----------------GKHLV----453
KCNB1-----PSPDASQHSSFFIESPKSSMKTNNP>L<KLRAL----------------KVNFM----677
KCNB2ASGSQCGLHSPLQSDNATDSPKSSLKGSNP>L<KSRSL----------------KVNFK----720
KCNC1---------------LTPDEGLPFTRSGTR>E<RY--G----------------P-CFL----548
KCNC2---------------LSPPERLPIRRSSTR>D<KNRRG----------------ETCFL----577
KCNC3---------------MSPEDKSPIT-PGSR>G<RYSRD----------------RACFL----709
KCNC4---------------PTPEERRALRRSTTR>D<RNKKA----------------AACFL----591
KCND1---------------VSSQPVGPGSLLSSC>C<PRRAKRRAIRLANSTASVS-RGSMQE----558
KCND2---------------LSSQQ----GVTSTC>C<SRRHKK-TFRIPNANVSGSHQGSIQE----555
KCND3---------------LSSHP----GLTTTC>C<SRRSKK-TTHLPNSNLPATRLRSMQE----572
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.R511Wc.1531C>T Inherited ArrhythmiaLQTSrs199472785SIFT: 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.R511Qc.1532G>A Putative BenignSIFT:
Polyphen: