Paralogue Annotation for KCNQ1 residue 564

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 564
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 564

No paralogue variants have been mapped to residue 564 for KCNQ1.



KCNQ1KPYDVRDVIEQYSQGHLNLMVRIKELQRRL>D<QSIGKPSLFIS-----------V-------576
KCNQ2RPYDVMDVIEQYSAGHLDMLSRIKSLQSRV>D<QIVGRGPAITD--KDR--T--KG-------607
KCNQ3RPYDVKDVIEQYSAGHLDMLSRIKYLQTRI>D<MIFTPGPPSTP--KHKKSQKGSAFTFPSQQ597
KCNQ4RPYDVKDVIEQYSAGHLDMLGRIKSLQTRV>D<QIVGRGPGDRKAREKG--D--KG-------603
KCNQ5RPYDVKDVIEQYSAGHLDMLCRIKSLQTRV>D<QILGKGQITSD-KKSR--E--KI-------590
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1PLLPVLGMYHDPLRNRGSAAAAVAGLECA->-<------------------------------711
KCNB2TARPLPVTTADFSLTTPQHISTILLEETP->-<------------------------------761
KCNC1GMRK----------DLCKESP---VIAKY->-<------------------------------576
KCNC2GIRKG----YEKSRSLNNIAGLAGNALRL->-<------------------------------614
KCNC3SIRKATGAPPLPPQDWRKPGPPS-FLPDL->-<------------------------------747
KCNC4SVRKG----TFVLRDLPLQHSP---EAAC->-<------------------------------624
KCND1HAPQSRSSLNAKPHDSLDLNCDSRDFVAA->-<------------------------------597
KCND2PLSNSRSSLNAKMEECVKLNCEQPYVTTA->-<------------------------------596
KCND3SLTTSRSSLNLKADDGLRPNCKTSQITTA->-<------------------------------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.D564Nc.1690G>A Putative BenignSIFT:
Polyphen:
p.D564Hc.1690G>C 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