Paralogue Annotation for KCNQ1 residue 392

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 392
Reference Amino Acid: W - Tryptophan
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 392

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCND3L450FBrugada syndrome Low1 21349352, 22284586, 22840528, 26016905

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----------------------------ST>W<KI-YIRK-A--PRSH---------------403
KCNQ2----------------------------ST>W<QY-YERT-VTVPMYSS--QT-QTY------379
KCNQ3----------------------------AT>W<RF-YESV-VSFPFFR---------------412
KCNQ4----------------------------AT>W<YY-YDSI-L--PSFRELALL-FEH------385
KCNQ5----------------------------AT>W<K----------PHLK---------------398
KCNA1------------------------------>-<--DL-SR--RS-----SS-T-MS-------450
KCNA10------------------------------>-<---L--N--SV-----GS-R-MG-------492
KCNA2------------------------------>-<-DLK-KS--RS-----AS-T-IS-------454
KCNA3------------------------------>-<-ELR-KA--RS-----NS-T-LS-------525
KCNA4------------------------------>-<-KFR-SS--TS-----SS-L-GD-------607
KCNA5--------KVSG-SRGSFCKAGG------T>-<-LEN--A--DS----ARR-G-SC-------581
KCNA6---------------------QP------A>-<-PDL--R--AT-----DN-G-LG-------497
KCNA7-----------------------------G>-<-PLE--G--KA-----NG-G-LV-------433
KCNB1------------------------------>-<---M-K--DAF-----AR-S-IE-----MM461
KCNB2------------------------------>-<---L-K--DAF-----AR-S-ME-----LI465
KCNC1----------------------------VN>S<PHHS-TQ--SD-----TC-P-LA-------491
KCNC2----------------------------LN>M<ACNS-TQ--SD-----TC-L-GK-------528
KCNC3GVTVAGAYPAGPHTHPGLLRGGAGGLGIMG>L<PPLP-AP--GE-----PC-P-LA-------649
KCNC4----------------------------ET>S<PRDS-TC--SD-----TS-PPAR-------528
KCND1------------------------------>-<---F-LQYKQN-----GG-L-ED-----SG459
KCND2------------------------------>-<---Y-MQSKRN-----GL-L-SN-----QL457
KCND3------------------------------><---Y-LHSKRN-----GL-L-NE-----AL454
KCNF1------------------------------>-<---G-KT-GGS-----RS-D-LD-----NL452
KCNG1------------------------------>-<---S-Q----D-----SD-I-LFGSAS--S507
KCNG2------------------------------>-<---T-E----D-----SS-Q-GPDSAGLAD454
KCNG3------------------------------>-<---F-L------------------------435
KCNG4------------------------------>-<---H-V----A-----SE-H-EL-----MN502
KCNS1------------------------------>-<--GV-S--EAS-----LE-T-SR-----ET503
KCNS2------------------------------>-<---L-R--DYY-----AH-K-VK-----SL455
KCNS3------------------------------>-<---I-R--DIY-----AQ-R-MH-----TF451
KCNV1------------------------------>-<---L-R--DVY-----AR-S-IM-----EM479
KCNV2------------------------------>-<--KI-A--ECL-----LG-S-NP-----QL539
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W392Rc.1174T>C Inherited ArrhythmiaLQTSrs199472774SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum Mutat. 1999 13(4):301-10. 10220144
Inherited ArrhythmiaLQTS Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. Circ Res. 2006 98(8):1055-63. 16556865