Paralogue Annotation for KCNQ1 residue 535

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 535
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 535

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2P561LOhtahara syndromeMedium2 23621294
KCNQ2P561SEpileptic encephalopathy, early infantileMedium2 26993267

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--IRRMQ----------YFVAKKKFQQARK>P<YDVRDVIEQYSQGHLNLMVRIKELQRRLDQ565
KCNQ2--VCVMR----------FLVSKRKFKESLR>P<YDVMDVIEQYSAGHLDMLSRIKSLQSRVDQ591
KCNQ3--VRILQ----------FRLYKKKFKETLR>P<YDVKDVIEQYSAGHLDMLSRIKYLQTRIDM570
KCNQ4--IRILK----------FLVAKRKFKETLR>P<YDVKDVIEQYSAGHLDMLGRIKSLQTRVDQ585
KCNQ5--IRIMK----------FHVAKRKFKETLR>P<YDVKDVIEQYSAGHLDMLCRIKSLQTRVDQ573
KCNA1--KSKLL----------TD----------->-<------------------------------494
KCNA10--CSTEK----------SR----------->-<------------------------------510
KCNA2--ITKML----------TD----------->-<------------------------------498
KCNA3--IKKIF----------TD----------->-<------------------------------574
KCNA4--AKAVE----------TD----------->-<------------------------------652
KCNA5--LRRSLYALCLDTSRETD----------->-<------------------------------612
KCNA6--EKRML----------TE----------->-<------------------------------528
KCNA7--GKHLV----------TE----------->-<------------------------------455
KCNB1--KVNFM----------EG-------DPSP>L<LPVLGMYHDPLRNRGSAAAAVAGLECA---711
KCNB2--KVNFK----------ENRGSAPQTPPST>A<RPLPVTTADFSLTTPQHISTILLEETP---761
KCNC1--P-CFL----------LSTGEYACPPGGG>M<RK----------DLCKESP---VIAKY---576
KCNC2--ETCFL----------LTTGDYTCASDGG>I<RKG----YEKSRSLNNIAGLAGNALRL---614
KCNC3--RACFL----------LT--DYAPSPDGS>I<RKATGAPPLPPQDWRKPGPPS-FLPDL---747
KCNC4--AACFL----------LSTGDYACA-DGS>V<RKG----TFVLRDLPLQHSP---EAAC---624
KCND1-RGSMQE----------LDMLA--GLRRSH>A<PQSRSSLNAKPHDSLDLNCDSRDFVAA---597
KCND2HQGSIQE----------LSTIQIRCVERTP>L<SNSRSSLNAKMEECVKLNCEQPYVTTA---596
KCND3RLRSMQE----------LSTIHIQGSEQPS>L<TTSRSSLNLKADDGLRPNCKTSQITTA---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 535 for KCNQ1.