Paralogue Annotation for KCNQ1 residue 489

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 489
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 489

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2E515DEpilepsy, benign neonatalLow1 19380078, 20981092, 22995991, 25819767

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--PHFMRTN----------------SFAED>L<DL----------------------------491
KCNQ2AASRQNSEE----------------ASLPG>E<DI----------------------------517
KCNQ3-YAFWQSSE----------------DAGTG>D<PM----------------------------496
KCNQ4---PRTSAE----------------DA-PS>E<EV----------------------------511
KCNQ5QPKPVIDAD----------------TALGT>D<DV----------------------------499
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1EGVIDMRSMSSIDSFISCATDFPEATRFSH>S<P---LTSLP------------SKTGGSTAP622
KCNB2EVIVDMKSTSSIDSFTSCATDFTETERSPL>P<PPSASHLQMKFPTDLPGTEEHQRARGPPFL652
KCNC1--------------------------CPHI>D<QA----------------------------525
KCNC2--------------------------STGS>E<PP----------------------------551
KCNC3--------------------------CPAI>D<QP----------------------------683
KCNC4--------------------------GAGL>T<QP----------------------------561
KCND1TFSEALGAV----------------SPGGR>T<-S----------------------------513
KCND2VFEESCMEV----------------ATVNR>P<SS----------------------------514
KCND3MFEQNCMES----------------SMQNY>P<ST----------------------------531
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3------------------------------>-<------------------------------
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 489 for KCNQ1.