Paralogue Annotation for KCNQ1 residue 549

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 549
Reference Amino Acid: H - Histidine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 549

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCND3G600RBrugada syndromeMedium2 21349352, 22284586, 23414114, 26016905
KCND3G600RSudden unexplained death syndromeMedium2 22457051, 22840528

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---YFVAKKKFQQARKPYDVRDVIEQYSQG>H<LNLMVRIKELQRRLDQSIGKPSLFIS----575
KCNQ2---FLVSKRKFKESLRPYDVMDVIEQYSAG>H<LDMLSRIKSLQSRVDQIVGRGPAITD--KD603
KCNQ3---FRLYKKKFKETLRPYDVKDVIEQYSAG>H<LDMLSRIKYLQTRIDMIFTPGPPSTP--KH582
KCNQ4---FLVAKRKFKETLRPYDVKDVIEQYSAG>H<LDMLGRIKSLQTRVDQIVGRGPGDRKAREK599
KCNQ5---FHVAKRKFKETLRPYDVKDVIEQYSAG>H<LDMLCRIKSLQTRVDQILGKGQITSD-KKS586
KCNA1---TD------------------------->-<------------------------------494
KCNA10---SR------------------------->-<------------------------------510
KCNA2---TD------------------------->-<------------------------------498
KCNA3---TD------------------------->-<------------------------------574
KCNA4---TD------------------------->-<------------------------------652
KCNA5SRETD------------------------->-<------------------------------612
KCNA6---TE------------------------->-<------------------------------528
KCNA7---TE------------------------->-<------------------------------455
KCNB1---EG-------DPSPLLPVLGMYHDPLRN>R<GSAAAAVAGLECA-----------------711
KCNB2---ENRGSAPQTPPSTARPLPVTTADFSLT>T<PQHISTILLEETP-----------------761
KCNC1---LSTGEYACPPGGGMRK----------D>L<CKESP---VIAKY-----------------576
KCNC2---LTTGDYTCASDGGIRKG----YEKSRS>L<NNIAGLAGNALRL-----------------614
KCNC3---LT--DYAPSPDGSIRKATGAPPLPPQD>W<RKPGPPS-FLPDL-----------------747
KCNC4---LSTGDYACA-DGSVRKG----TFVLRD>L<PLQHSP---EAAC-----------------624
KCND1---LDMLA--GLRRSHAPQSRSSLNAKPHD>S<LDLNCDSRDFVAA-----------------597
KCND2---LSTIQIRCVERTPLSNSRSSLNAKMEE>C<VKLNCEQPYVTTA-----------------596
KCND3---LSTIHIQGSEQPSLTTSRSSLNLKADD>G<LRPNCKTSQITTA-----------------613
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 549 for KCNQ1.