Paralogue Annotation for KCNQ1 residue 557

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 557
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 557

No paralogue variants have been mapped to residue 557 for KCNQ1.



KCNQ1KKFQQARKPYDVRDVIEQYSQGHLNLMVRI>K<ELQRRLDQSIGKPSLFIS-----------V576
KCNQ2RKFKESLRPYDVMDVIEQYSAGHLDMLSRI>K<SLQSRVDQIVGRGPAITD--KDR--T--KG607
KCNQ3KKFKETLRPYDVKDVIEQYSAGHLDMLSRI>K<YLQTRIDMIFTPGPPSTP--KHKKSQKGSA590
KCNQ4RKFKETLRPYDVKDVIEQYSAGHLDMLGRI>K<SLQTRVDQIVGRGPGDRKAREKG--D--KG603
KCNQ5RKFKETLRPYDVKDVIEQYSAGHLDMLCRI>K<SLQTRVDQILGKGQITSD-KKSR--E--KI590
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1----DPSPLLPVLGMYHDPLRNRGSAAAAV>A<GLECA-------------------------711
KCNB2APQTPPSTARPLPVTTADFSLTTPQHISTI>L<LEETP-------------------------761
KCNC1YACPPGGGMRK----------DLCKESP-->-<VIAKY-------------------------576
KCNC2YTCASDGGIRKG----YEKSRSLNNIAGLA>G<NALRL-------------------------614
KCNC3YAPSPDGSIRKATGAPPLPPQDWRKPGPPS>-<FLPDL-------------------------747
KCNC4YACA-DGSVRKG----TFVLRDLPLQHSP->-<-EAAC-------------------------624
KCND1--GLRRSHAPQSRSSLNAKPHDSLDLNCDS>R<DFVAA-------------------------597
KCND2IRCVERTPLSNSRSSLNAKMEECVKLNCEQ>P<YVTTA-------------------------596
KCND3IQGSEQPSLTTSRSSLNLKADDGLRPNCKT>S<QITTA-------------------------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.K557Ec.1669A>G Inherited ArrhythmiaLQTSrs199472801SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336
Inherited 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
Inherited ArrhythmiaLQTS Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIPâ‚‚. J Cell Sci. 2014 127(Pt 18):3943-55. doi: 10.1242/jcs.147033. 25037568
Inherited ArrhythmiaLQTS Long-QT mutation p.K557E-Kv7.1: dominant-negative suppression of IKs, but preserved cAMP-dependent up-regulation. Cardiovasc Res. 2014 104(1):216-25. doi: 10.1093/cvr/cvu191. 25139741