Paralogue Annotation for KCNQ1 residue 477

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 477
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 477

No paralogue variants have been mapped to residue 477 for KCNQ1.



KCNQ1------------------------------>P<HFMRTN----------------SFAEDLDL491
KCNQ2----------------------------AA>S<RQNSEE----------------ASLPGEDI517
KCNQ3-----------------------------Y>A<FWQSSE----------------DAGTGDPM496
KCNQ4------------------------------>-<PRTSAE----------------DA-PSEEV511
KCNQ5----------------------------QP>K<PVIDAD----------------TALGTDDV499
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1AAQ-SKPKEELEMESIPSPVAPLP-TRTEG>V<IDMRSMSSIDSFISCATDFPEATRFSHSP-608
KCNB2PERPSAYEEEIEMEEVVCPQEQLAVAQTEV>I<VDMKSTSSIDSFTSCATDFTETERSPLPPP624
KCNC1------------------------------>-<-----------------------CPHIDQA525
KCNC2------------------------------>-<-----------------------STGSEPP551
KCNC3------------------------------>-<-----------------------CPAIDQP683
KCNC4------------------------------>-<-----------------------GAGLTQP561
KCND1----------------------------TF>S<EALGAV----------------SPGGRT-S513
KCND2----------------------------VF>E<ESCMEV----------------ATVNRPSS514
KCND3----------------------------MF>E<QNCMES----------------SMQNYPST531
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.P477Lc.1430C>T Inherited ArrhythmiaLQTSrs199472784SIFT: 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