Paralogue Annotation for KCNQ1 residue 515

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 515
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 515

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2R541GEpileptic encephalopathy, early-onsetLow2 26007637

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.



KCNQ1-----------LLTPITHISQLREHHRATI>K<V----------------IRRMQ--------521
KCNQ2-----------SCPCEFVTEDLTPGLKVSI>R<A----------------VCVMR--------547
KCNQ3-----------GYGNDFPIEDMIPTLKAAI>R<A----------------VRILQ--------526
KCNQ4-----------SYQCELTVDDIMPAVKTVI>R<S----------------IRILK--------541
KCNQ5-----------GCQCDVSVEDLTPPLKTVI>R<A----------------IRIMK--------529
KCNA1-------------TAN----CTTAN--QNC>V<N----------------KSKLL--------492
KCNA10------------------------------>-<G----------------CSTEK--------508
KCNA2-------------TAN----CTLAN--TNY>V<N----------------ITKML--------496
KCNA3-------------TAT----CTTNNNPNSC>V<N----------------IKKIF--------572
KCNA4-------------GDD----SETDK--NNC>S<N----------------AKAVE--------650
KCNA5------------------------------>-<-----------------LRRSLYALCLDTS608
KCNA6---------------------P-----HRA>Y<A----------------EKRML--------526
KCNA7---------------------------LWA>P<P----------------GKHLV--------453
KCNB1-PSPDASQHSSFFIESPKSSMKTNNPLKLR>A<L----------------KVNFM--------677
KCNB2QCGLHSPLQSDNATDSPKSSLKGSNPLKSR>S<L----------------KVNFK--------720
KCNC1-----------LTPDEGLPFTRSGTRERY->-<G----------------P-CFL--------548
KCNC2-----------LSPPERLPIRRSSTRDKNR>R<G----------------ETCFL--------577
KCNC3-----------MSPEDKSPIT-PGSRGRYS>R<D----------------RACFL--------709
KCNC4-----------PTPEERRALRRSTTRDRNK>K<A----------------AACFL--------591
KCND1-----------VSSQPVGPGSLLSSCCPRR>A<KRRAIRLANSTASVS-RGSMQE--------558
KCND2-----------LSSQQ----GVTSTCCSRR>H<KK-TFRIPNANVSGSHQGSIQE--------555
KCND3-----------LSSHP----GLTTTCCSRR>S<KK-TTHLPNSNLPATRLRSMQE--------572
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.Lys515Asnc.1545G>T UnknownSIFT:
Polyphen: