Paralogue Annotation for KCNQ1 residue 547

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 547
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 547

No paralogue variants have been mapped to residue 547 for KCNQ1.



KCNQ1-----YFVAKKKFQQARKPYDVRDVIEQYS>Q<GHLNLMVRIKELQRRLDQSIGKPSLFIS--575
KCNQ2-----FLVSKRKFKESLRPYDVMDVIEQYS>A<GHLDMLSRIKSLQSRVDQIVGRGPAITD--601
KCNQ3-----FRLYKKKFKETLRPYDVKDVIEQYS>A<GHLDMLSRIKYLQTRIDMIFTPGPPSTP--580
KCNQ4-----FLVAKRKFKETLRPYDVKDVIEQYS>A<GHLDMLGRIKSLQTRVDQIVGRGPGDRKAR597
KCNQ5-----FHVAKRKFKETLRPYDVKDVIEQYS>A<GHLDMLCRIKSLQTRVDQILGKGQITSD-K584
KCNA1-----TD----------------------->-<------------------------------494
KCNA10-----SR----------------------->-<------------------------------510
KCNA2-----TD----------------------->-<------------------------------498
KCNA3-----TD----------------------->-<------------------------------574
KCNA4-----TD----------------------->-<------------------------------652
KCNA5DTSRETD----------------------->-<------------------------------612
KCNA6-----TE----------------------->-<------------------------------528
KCNA7-----TE----------------------->-<------------------------------455
KCNB1-----EG-------DPSPLLPVLGMYHDPL>R<NRGSAAAAVAGLECA---------------711
KCNB2-----ENRGSAPQTPPSTARPLPVTTADFS>L<TTPQHISTILLEETP---------------761
KCNC1-----LSTGEYACPPGGGMRK--------->-<DLCKESP---VIAKY---------------576
KCNC2-----LTTGDYTCASDGGIRKG----YEKS>R<SLNNIAGLAGNALRL---------------614
KCNC3-----LT--DYAPSPDGSIRKATGAPPLPP>Q<DWRKPGPPS-FLPDL---------------747
KCNC4-----LSTGDYACA-DGSVRKG----TFVL>R<DLPLQHSP---EAAC---------------624
KCND1-----LDMLA--GLRRSHAPQSRSSLNAKP>H<DSLDLNCDSRDFVAA---------------597
KCND2-----LSTIQIRCVERTPLSNSRSSLNAKM>E<ECVKLNCEQPYVTTA---------------596
KCND3-----LSTIHIQGSEQPSLTTSRSSLNLKA>D<DGLRPNCKTSQITTA---------------613
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.Q547Rc.1640A>G Inherited ArrhythmiaLQTSrs199472798SIFT: 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