Paralogue Annotation for KCNQ1 residue 569

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 569
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 569

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ3P574SEpilepsy, rolandic without neonatal seizuresMedium2 18625963, 19344764, 20981092
KCNQ3P574TEpilepsy, idiopathic Medium3 21703448
KCNQ2R595WEpilepsy, benign, infantile offsetMedium3 25046240

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.



KCNQ1RDVIEQYSQGHLNLMVRIKELQRRLDQSIG>K<PSLFIS-----------V------------576
KCNQ2MDVIEQYSAGHLDMLSRIKSLQSRVDQIVG>R<GPAITD--KDR--T--KG------------607
KCNQ3KDVIEQYSAGHLDMLSRIKYLQTRIDMIFT>P<GPPSTP--KHKKSQKGSAFTFPSQQSPRNE602
KCNQ4KDVIEQYSAGHLDMLGRIKSLQTRVDQIVG>R<GPGDRKAREKG--D--KG------------603
KCNQ5KDVIEQYSAGHLDMLCRIKSLQTRVDQILG>K<GQITSD-KKSR--E--KI------------590
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1LGMYHDPLRNRGSAAAAVAGLECA------>-<------------------------------711
KCNB2PVTTADFSLTTPQHISTILLEETP------>-<------------------------------761
KCNC1---------DLCKESP---VIAKY------>-<------------------------------576
KCNC2----YEKSRSLNNIAGLAGNALRL------>-<------------------------------614
KCNC3TGAPPLPPQDWRKPGPPS-FLPDL------>-<------------------------------747
KCNC4----TFVLRDLPLQHSP---EAAC------>-<------------------------------624
KCND1RSSLNAKPHDSLDLNCDSRDFVAA------>-<------------------------------597
KCND2RSSLNAKMEECVKLNCEQPYVTTA------>-<------------------------------596
KCND3RSSLNLKADDGLRPNCKTSQITTA------>-<------------------------------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.K569Ec.1705A>G Inherited ArrhythmiaLQTSrs199472808SIFT: 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
Inherited ArrhythmiaLQTS RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159
p.Lys569Argc.1706A>G UnknownSIFT:
Polyphen: