Paralogue Annotation for KCNQ1 residue 537

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 537
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 537

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2D563EOhtahara syndromeMedium1 23621294
KCNQ2D563NEpileptic encephalopathy, early-onsetMedium1 26007637

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.



KCNQ1IRRMQ----------YFVAKKKFQQARKPY>D<VRDVIEQYSQGHLNLMVRIKELQRRLDQSI567
KCNQ2VCVMR----------FLVSKRKFKESLRPY>D<VMDVIEQYSAGHLDMLSRIKSLQSRVDQIV593
KCNQ3VRILQ----------FRLYKKKFKETLRPY>D<VKDVIEQYSAGHLDMLSRIKYLQTRIDMIF572
KCNQ4IRILK----------FLVAKRKFKETLRPY>D<VKDVIEQYSAGHLDMLGRIKSLQTRVDQIV587
KCNQ5IRIMK----------FHVAKRKFKETLRPY>D<VKDVIEQYSAGHLDMLCRIKSLQTRVDQIL575
KCNA1KSKLL----------TD------------->-<------------------------------494
KCNA10CSTEK----------SR------------->-<------------------------------510
KCNA2ITKML----------TD------------->-<------------------------------498
KCNA3IKKIF----------TD------------->-<------------------------------574
KCNA4AKAVE----------TD------------->-<------------------------------652
KCNA5LRRSLYALCLDTSRETD------------->-<------------------------------612
KCNA6EKRML----------TE------------->-<------------------------------528
KCNA7GKHLV----------TE------------->-<------------------------------455
KCNB1KVNFM----------EG-------DPSPLL>P<VLGMYHDPLRNRGSAAAAVAGLECA-----711
KCNB2KVNFK----------ENRGSAPQTPPSTAR>P<LPVTTADFSLTTPQHISTILLEETP-----761
KCNC1P-CFL----------LSTGEYACPPGGGMR>K<----------DLCKESP---VIAKY-----576
KCNC2ETCFL----------LTTGDYTCASDGGIR>K<G----YEKSRSLNNIAGLAGNALRL-----614
KCNC3RACFL----------LT--DYAPSPDGSIR>K<ATGAPPLPPQDWRKPGPPS-FLPDL-----747
KCNC4AACFL----------LSTGDYACA-DGSVR>K<G----TFVLRDLPLQHSP---EAAC-----624
KCND1GSMQE----------LDMLA--GLRRSHAP>Q<SRSSLNAKPHDSLDLNCDSRDFVAA-----597
KCND2GSIQE----------LSTIQIRCVERTPLS>N<SRSSLNAKMEECVKLNCEQPYVTTA-----596
KCND3RSMQE----------LSTIHIQGSEQPSLT>T<SRSSLNLKADDGLRPNCKTSQITTA-----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 537 for KCNQ1.