Paralogue Annotation for KCNQ1 residue 527

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 527
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 527

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2R553QEpilepsy, benign neonatalMedium2 11690625, 24375629, 26073431
KCNQ2R553LOhtahara syndromeMedium2 23621294
KCNQ2R553WOhtahara/West syndromeMedium2 23621294

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----------YFVAK>K<KFQQARKPYDVRDVIEQYSQGHLNLMVRIK557
KCNQ2----------VCVMR----------FLVSK>R<KFKESLRPYDVMDVIEQYSAGHLDMLSRIK583
KCNQ3----------VRILQ----------FRLYK>K<KFKETLRPYDVKDVIEQYSAGHLDMLSRIK562
KCNQ4----------IRILK----------FLVAK>R<KFKETLRPYDVKDVIEQYSAGHLDMLGRIK577
KCNQ5----------IRIMK----------FHVAK>R<KFKETLRPYDVKDVIEQYSAGHLDMLCRIK565
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--->-<---DPSPLLPVLGMYHDPLRNRGSAAAAVA706
KCNB2----------KVNFK----------ENRGS>A<PQTPPSTARPLPVTTADFSLTTPQHISTIL756
KCNC1----------P-CFL----------LSTGE>Y<ACPPGGGMRK----------DLCKESP---571
KCNC2----------ETCFL----------LTTGD>Y<TCASDGGIRKG----YEKSRSLNNIAGLAG609
KCNC3----------RACFL----------LT--D>Y<APSPDGSIRKATGAPPLPPQDWRKPGPPS-742
KCNC4----------AACFL----------LSTGD>Y<ACA-DGSVRKG----TFVLRDLPLQHSP--620
KCND1ANSTASVS-RGSMQE----------LDMLA>-<-GLRRSHAPQSRSSLNAKPHDSLDLNCDSR592
KCND2PNANVSGSHQGSIQE----------LSTIQ>I<RCVERTPLSNSRSSLNAKMEECVKLNCEQP591
KCND3PNSNLPATRLRSMQE----------LSTIH>I<QGSEQPSLTTSRSSLNLKADDGLRPNCKTS608
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 527 for KCNQ1.