Paralogue Annotation for KCNQ1 residue 480

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 480
Reference Amino Acid: M - Methionine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 480

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ4T501TDeafness, autosomal dominant 2 ?Low1 17033161

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---------------------------PHF>M<RTN----------------SFAEDLDL---491
KCNQ2-------------------------AASRQ>N<SEE----------------ASLPGEDI---517
KCNQ3--------------------------YAFW>Q<SSE----------------DAGTGDPM---496
KCNQ4----------------------------PR>T<SAE----------------DA-PSEEV---511
KCNQ5-------------------------QPKPV>I<DAD----------------TALGTDDV---499
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1-SKPKEELEMESIPSPVAPLP-TRTEGVID>M<RSMSSIDSFISCATDFPEATRFSHSP---L609
KCNB2PSAYEEEIEMEEVVCPQEQLAVAQTEVIVD>M<KSTSSIDSFTSCATDFTETERSPLPPPSAS627
KCNC1------------------------------>-<--------------------CPHIDQA---525
KCNC2------------------------------>-<--------------------STGSEPP---551
KCNC3------------------------------>-<--------------------CPAIDQP---683
KCNC4------------------------------>-<--------------------GAGLTQP---561
KCND1-------------------------TFSEA>L<GAV----------------SPGGRT-S---513
KCND2-------------------------VFEES>C<MEV----------------ATVNRPSS---514
KCND3-------------------------MFEQN>C<MES----------------SMQNYPST---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 480 for KCNQ1.