Paralogue Annotation for KCNQ1 residue 490

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 490
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 490

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCND3S530PSudden infant death syndromeLow1 22457051

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----------------SFAEDL>D<L-----------------------------491
KCNQ2ASRQNSEE----------------ASLPGE>D<I-----------------------------517
KCNQ3YAFWQSSE----------------DAGTGD>P<M-----------------------------496
KCNQ4--PRTSAE----------------DA-PSE>E<V-----------------------------511
KCNQ5PKPVIDAD----------------TALGTD>D<V-----------------------------499
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1GVIDMRSMSSIDSFISCATDFPEATRFSHS>P<---LTSLP------------SKTGGSTAPE623
KCNB2VIVDMKSTSSIDSFTSCATDFTETERSPLP>P<PSASHLQMKFPTDLPGTEEHQRARGPPFLT653
KCNC1-------------------------CPHID>Q<A-----------------------------525
KCNC2-------------------------STGSE>P<P-----------------------------551
KCNC3-------------------------CPAID>Q<P-----------------------------683
KCNC4-------------------------GAGLT>Q<P-----------------------------561
KCND1FSEALGAV----------------SPGGRT>-<S-----------------------------513
KCND2FEESCMEV----------------ATVNRP>S<S-----------------------------514
KCND3FEQNCMES----------------SMQNYP>S<T-----------------------------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 490 for KCNQ1.