Paralogue Annotation for KCNQ1 residue 530

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 530
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 530

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2K556EEpileptic encephalopathy, neonatalLow2 24107868, 26077850

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----------YFVAKKKF>Q<QARKPYDVRDVIEQYSQGHLNLMVRIKELQ560
KCNQ2-------VCVMR----------FLVSKRKF>K<ESLRPYDVMDVIEQYSAGHLDMLSRIKSLQ586
KCNQ3-------VRILQ----------FRLYKKKF>K<ETLRPYDVKDVIEQYSAGHLDMLSRIKYLQ565
KCNQ4-------IRILK----------FLVAKRKF>K<ETLRPYDVKDVIEQYSAGHLDMLGRIKSLQ580
KCNQ5-------IRIMK----------FHVAKRKF>K<ETLRPYDVKDVIEQYSAGHLDMLCRIKSLQ568
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------>-<DPSPLLPVLGMYHDPLRNRGSAAAAVAGLE709
KCNB2-------KVNFK----------ENRGSAPQ>T<PPSTARPLPVTTADFSLTTPQHISTILLEE759
KCNC1-------P-CFL----------LSTGEYAC>P<PGGGMRK----------DLCKESP---VIA574
KCNC2-------ETCFL----------LTTGDYTC>A<SDGGIRKG----YEKSRSLNNIAGLAGNAL612
KCNC3-------RACFL----------LT--DYAP>S<PDGSIRKATGAPPLPPQDWRKPGPPS-FLP745
KCNC4-------AACFL----------LSTGDYAC>A<-DGSVRKG----TFVLRDLPLQHSP---EA622
KCND1TASVS-RGSMQE----------LDMLA--G>L<RRSHAPQSRSSLNAKPHDSLDLNCDSRDFV595
KCND2NVSGSHQGSIQE----------LSTIQIRC>V<ERTPLSNSRSSLNAKMEECVKLNCEQPYVT594
KCND3NLPATRLRSMQE----------LSTIHIQG>S<EQPSLTTSRSSLNLKADDGLRPNCKTSQIT611
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 530 for KCNQ1.