Paralogue Annotation for KCNQ1 residue 543

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 543
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 543

No paralogue variants have been mapped to residue 543 for KCNQ1.



KCNQ1---------YFVAKKKFQQARKPYDVRDVI>E<QYSQGHLNLMVRIKELQRRLDQSIGKPSLF573
KCNQ2---------FLVSKRKFKESLRPYDVMDVI>E<QYSAGHLDMLSRIKSLQSRVDQIVGRGPAI599
KCNQ3---------FRLYKKKFKETLRPYDVKDVI>E<QYSAGHLDMLSRIKYLQTRIDMIFTPGPPS578
KCNQ4---------FLVAKRKFKETLRPYDVKDVI>E<QYSAGHLDMLGRIKSLQTRVDQIVGRGPGD593
KCNQ5---------FHVAKRKFKETLRPYDVKDVI>E<QYSAGHLDMLCRIKSLQTRVDQILGKGQIT581
KCNA1---------TD------------------->-<------------------------------494
KCNA10---------SR------------------->-<------------------------------510
KCNA2---------TD------------------->-<------------------------------498
KCNA3---------TD------------------->-<------------------------------574
KCNA4---------TD------------------->-<------------------------------652
KCNA5ALCLDTSRETD------------------->-<------------------------------612
KCNA6---------TE------------------->-<------------------------------528
KCNA7---------TE------------------->-<------------------------------455
KCNB1---------EG-------DPSPLLPVLGMY>H<DPLRNRGSAAAAVAGLECA-----------711
KCNB2---------ENRGSAPQTPPSTARPLPVTT>A<DFSLTTPQHISTILLEETP-----------761
KCNC1---------LSTGEYACPPGGGMRK----->-<----DLCKESP---VIAKY-----------576
KCNC2---------LTTGDYTCASDGGIRKG---->Y<EKSRSLNNIAGLAGNALRL-----------614
KCNC3---------LT--DYAPSPDGSIRKATGAP>P<LPPQDWRKPGPPS-FLPDL-----------747
KCNC4---------LSTGDYACA-DGSVRKG---->T<FVLRDLPLQHSP---EAAC-----------624
KCND1---------LDMLA--GLRRSHAPQSRSSL>N<AKPHDSLDLNCDSRDFVAA-----------597
KCND2---------LSTIQIRCVERTPLSNSRSSL>N<AKMEECVKLNCEQPYVTTA-----------596
KCND3---------LSTIHIQGSEQPSLTTSRSSL>N<LKADDGLRPNCKTSQITTA-----------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.E543Kc.1627G>A Inherited ArrhythmiaLQTSrs199472797SIFT: 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