Paralogue Annotation for KCNQ1 residue 545

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 545
Reference Amino Acid: Y - Tyrosine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 545

No paralogue variants have been mapped to residue 545 for KCNQ1.



KCNQ1-------YFVAKKKFQQARKPYDVRDVIEQ>Y<SQGHLNLMVRIKELQRRLDQSIGKPSLFIS575
KCNQ2-------FLVSKRKFKESLRPYDVMDVIEQ>Y<SAGHLDMLSRIKSLQSRVDQIVGRGPAITD601
KCNQ3-------FRLYKKKFKETLRPYDVKDVIEQ>Y<SAGHLDMLSRIKYLQTRIDMIFTPGPPSTP580
KCNQ4-------FLVAKRKFKETLRPYDVKDVIEQ>Y<SAGHLDMLGRIKSLQTRVDQIVGRGPGDRK595
KCNQ5-------FHVAKRKFKETLRPYDVKDVIEQ>Y<SAGHLDMLCRIKSLQTRVDQILGKGQITSD583
KCNA1-------TD--------------------->-<------------------------------494
KCNA10-------SR--------------------->-<------------------------------510
KCNA2-------TD--------------------->-<------------------------------498
KCNA3-------TD--------------------->-<------------------------------574
KCNA4-------TD--------------------->-<------------------------------652
KCNA5CLDTSRETD--------------------->-<------------------------------612
KCNA6-------TE--------------------->-<------------------------------528
KCNA7-------TE--------------------->-<------------------------------455
KCNB1-------EG-------DPSPLLPVLGMYHD>P<LRNRGSAAAAVAGLECA-------------711
KCNB2-------ENRGSAPQTPPSTARPLPVTTAD>F<SLTTPQHISTILLEETP-------------761
KCNC1-------LSTGEYACPPGGGMRK------->-<--DLCKESP---VIAKY-------------576
KCNC2-------LTTGDYTCASDGGIRKG----YE>K<SRSLNNIAGLAGNALRL-------------614
KCNC3-------LT--DYAPSPDGSIRKATGAPPL>P<PQDWRKPGPPS-FLPDL-------------747
KCNC4-------LSTGDYACA-DGSVRKG----TF>V<LRDLPLQHSP---EAAC-------------624
KCND1-------LDMLA--GLRRSHAPQSRSSLNA>K<PHDSLDLNCDSRDFVAA-------------597
KCND2-------LSTIQIRCVERTPLSNSRSSLNA>K<MEECVKLNCEQPYVTTA-------------596
KCND3-------LSTIHIQGSEQPSLTTSRSSLNL>K<ADDGLRPNCKTSQITTA-------------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.Y545Cc.1634A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661