Paralogue Annotation for KCNQ1 residue 552

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 552
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 552

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2M578IEpileptic encephalopathy, neonatalMedium2 24371303
KCNQ2M578VEpilepsy, benign neonatalMedium2 25982755

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.



KCNQ1YFVAKKKFQQARKPYDVRDVIEQYSQGHLN>L<MVRIKELQRRLDQSIGKPSLFIS-------575
KCNQ2FLVSKRKFKESLRPYDVMDVIEQYSAGHLD>M<LSRIKSLQSRVDQIVGRGPAITD--KDR--604
KCNQ3FRLYKKKFKETLRPYDVKDVIEQYSAGHLD>M<LSRIKYLQTRIDMIFTPGPPSTP--KHKKS585
KCNQ4FLVAKRKFKETLRPYDVKDVIEQYSAGHLD>M<LGRIKSLQTRVDQIVGRGPGDRKAREKG--600
KCNQ5FHVAKRKFKETLRPYDVKDVIEQYSAGHLD>M<LCRIKSLQTRVDQILGKGQITSD-KKSR--587
KCNA1TD---------------------------->-<------------------------------494
KCNA10SR---------------------------->-<------------------------------510
KCNA2TD---------------------------->-<------------------------------498
KCNA3TD---------------------------->-<------------------------------574
KCNA4TD---------------------------->-<------------------------------652
KCNA5TD---------------------------->-<------------------------------612
KCNA6TE---------------------------->-<------------------------------528
KCNA7TE---------------------------->-<------------------------------455
KCNB1EG-------DPSPLLPVLGMYHDPLRNRGS>A<AAAVAGLECA--------------------711
KCNB2ENRGSAPQTPPSTARPLPVTTADFSLTTPQ>H<ISTILLEETP--------------------761
KCNC1LSTGEYACPPGGGMRK----------DLCK>E<SP---VIAKY--------------------576
KCNC2LTTGDYTCASDGGIRKG----YEKSRSLNN>I<AGLAGNALRL--------------------614
KCNC3LT--DYAPSPDGSIRKATGAPPLPPQDWRK>P<GPPS-FLPDL--------------------747
KCNC4LSTGDYACA-DGSVRKG----TFVLRDLPL>Q<HSP---EAAC--------------------624
KCND1LDMLA--GLRRSHAPQSRSSLNAKPHDSLD>L<NCDSRDFVAA--------------------597
KCND2LSTIQIRCVERTPLSNSRSSLNAKMEECVK>L<NCEQPYVTTA--------------------596
KCND3LSTIHIQGSEQPSLTTSRSSLNLKADDGLR>P<NCKTSQITTA--------------------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.L552Fc.1654C>T Putative BenignSIFT:
Polyphen: