Paralogue Annotation for KCNQ1 residue 394

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 394
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 394

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2Y362CEpilepsy, benign neonatalLow1 24375629, 26073431

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--------------------------STWK>I<-YIRK-A--PRSH-----------------403
KCNQ2--------------------------STWQ>Y<-YERT-VTVPMYSS--QT-QTY--------379
KCNQ3--------------------------ATWR>F<-YESV-VSFPFFR-----------------412
KCNQ4--------------------------ATWY>Y<-YDSI-L--PSFRELALL-FEH--------385
KCNQ5--------------------------ATWK>-<---------PHLK-----------------398
KCNA1------------------------------>-<DL-SR--RS-----SS-T-MS---------450
KCNA10------------------------------>-<-L--N--SV-----GS-R-MG---------492
KCNA2------------------------------>D<LK-KS--RS-----AS-T-IS---------454
KCNA3------------------------------>E<LR-KA--RS-----NS-T-LS---------525
KCNA4------------------------------>K<FR-SS--TS-----SS-L-GD---------607
KCNA5------KVSG-SRGSFCKAGG------T-->L<EN--A--DS----ARR-G-SC---------581
KCNA6-------------------QP------A-->P<DL--R--AT-----DN-G-LG---------497
KCNA7---------------------------G-->P<LE--G--KA-----NG-G-LV---------433
KCNB1------------------------------>-<-M-K--DAF-----AR-S-IE-----MMD-462
KCNB2------------------------------>-<-L-K--DAF-----AR-S-ME-----LID-466
KCNC1--------------------------VNSP>H<HS-TQ--SD-----TC-P-LA---------491
KCNC2--------------------------LNMA>C<NS-TQ--SD-----TC-L-GK---------528
KCNC3TVAGAYPAGPHTHPGLLRGGAGGLGIMGLP>P<LP-AP--GE-----PC-P-LA---------649
KCNC4--------------------------ETSP>R<DS-TC--SD-----TS-PPAR---------528
KCND1------------------------------>-<-F-LQYKQN-----GG-L-ED-----SG--459
KCND2------------------------------>-<-Y-MQSKRN-----GL-L-SN-----QLQ-458
KCND3------------------------------>-<-Y-LHSKRN-----GL-L-NE-----ALEL456
KCNF1------------------------------>-<-G-KT-GGS-----RS-D-LD-----NLP-453
KCNG1------------------------------>-<-S-Q----D-----SD-I-LFGSAS--SD-508
KCNG2------------------------------>-<-T-E----D-----SS-Q-GPDSAGLADD-455
KCNG3------------------------------>-<-F-L--------------------------435
KCNG4------------------------------>-<-H-V----A-----SE-H-EL-----MND-503
KCNS1------------------------------>-<GV-S--EAS-----LE-T-SR-----ETS-504
KCNS2------------------------------>-<-L-R--DYY-----AH-K-VK-----SLM-456
KCNS3------------------------------>-<-I-R--DIY-----AQ-R-MH-----TFI-452
KCNV1------------------------------>-<-L-R--DVY-----AR-S-IM-----EML-480
KCNV2------------------------------>-<KI-A--ECL-----LG-S-NP-----QLT-540
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 394 for KCNQ1.