Paralogue Annotation for KCNQ1 residue 528

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 528
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 528

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2K554NEpilepsy, benign neonatalMedium1 15249611

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----------YFVAKK>K<FQQARKPYDVRDVIEQYSQGHLNLMVRIKE558
KCNQ2---------VCVMR----------FLVSKR>K<FKESLRPYDVMDVIEQYSAGHLDMLSRIKS584
KCNQ3---------VRILQ----------FRLYKK>K<FKETLRPYDVKDVIEQYSAGHLDMLSRIKY563
KCNQ4---------IRILK----------FLVAKR>K<FKETLRPYDVKDVIEQYSAGHLDMLGRIKS578
KCNQ5---------IRIMK----------FHVAKR>K<FKETLRPYDVKDVIEQYSAGHLDMLCRIKS566
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---->-<--DPSPLLPVLGMYHDPLRNRGSAAAAVAG707
KCNB2---------KVNFK----------ENRGSA>P<QTPPSTARPLPVTTADFSLTTPQHISTILL757
KCNC1---------P-CFL----------LSTGEY>A<CPPGGGMRK----------DLCKESP---V572
KCNC2---------ETCFL----------LTTGDY>T<CASDGGIRKG----YEKSRSLNNIAGLAGN610
KCNC3---------RACFL----------LT--DY>A<PSPDGSIRKATGAPPLPPQDWRKPGPPS-F743
KCNC4---------AACFL----------LSTGDY>A<CA-DGSVRKG----TFVLRDLPLQHSP---620
KCND1NSTASVS-RGSMQE----------LDMLA->-<GLRRSHAPQSRSSLNAKPHDSLDLNCDSRD593
KCND2NANVSGSHQGSIQE----------LSTIQI>R<CVERTPLSNSRSSLNAKMEECVKLNCEQPY592
KCND3NSNLPATRLRSMQE----------LSTIHI>Q<GSEQPSLTTSRSSLNLKADDGLRPNCKTSQ609
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 528 for KCNQ1.