Paralogue Annotation for KCNQ1 residue 561

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 561
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 561

No paralogue variants have been mapped to residue 561 for KCNQ1.



KCNQ1QARKPYDVRDVIEQYSQGHLNLMVRIKELQ>R<RLDQSIGKPSLFIS-----------V----576
KCNQ2ESLRPYDVMDVIEQYSAGHLDMLSRIKSLQ>S<RVDQIVGRGPAITD--KDR--T--KG----607
KCNQ3ETLRPYDVKDVIEQYSAGHLDMLSRIKYLQ>T<RIDMIFTPGPPSTP--KHKKSQKGSAFTFP594
KCNQ4ETLRPYDVKDVIEQYSAGHLDMLGRIKSLQ>T<RVDQIVGRGPGDRKAREKG--D--KG----603
KCNQ5ETLRPYDVKDVIEQYSAGHLDMLCRIKSLQ>T<RVDQILGKGQITSD-KKSR--E--KI----590
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1DPSPLLPVLGMYHDPLRNRGSAAAAVAGLE>C<A-----------------------------711
KCNB2PPSTARPLPVTTADFSLTTPQHISTILLEE>T<P-----------------------------761
KCNC1PGGGMRK----------DLCKESP---VIA>K<Y-----------------------------576
KCNC2SDGGIRKG----YEKSRSLNNIAGLAGNAL>R<L-----------------------------614
KCNC3PDGSIRKATGAPPLPPQDWRKPGPPS-FLP>D<L-----------------------------747
KCNC4-DGSVRKG----TFVLRDLPLQHSP---EA>A<C-----------------------------624
KCND1RRSHAPQSRSSLNAKPHDSLDLNCDSRDFV>A<A-----------------------------597
KCND2ERTPLSNSRSSLNAKMEECVKLNCEQPYVT>T<A-----------------------------596
KCND3EQPSLTTSRSSLNLKADDGLRPNCKTSQIT>T<A-----------------------------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.R561Sc.1683G>T 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
p.Arg561Lysc.1682G>A UnknownSIFT:
Polyphen: