Paralogue Annotation for KCNQ1 residue 446

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 446
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 446

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNB2E522KBrugada syndromeLow1 25339316

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---------------TP-GEKMLTVPHITC>D<PPEERRL--------DHFSVDGYDSSVRKS468
KCNQ2---------------AAKGKGSPQAQTVRR>S<PSADQSLED-SPSKVPKSW--SFGDRSRAR493
KCNQ3---------------NTKGKL--------F>T<PLNVDAIEE-SPSKEPKPV--GLNNKERFR473
KCNQ4---------------TGPSKQHLAPPTMPT>S<PSSEQVGEATSPTKVQKSW--SFNDRTRFR492
KCNQ5---------------SIKSRQ--ASVGDRR>S<PSTDITAEG-SPTKVQKSW--SFNDRTRFR474
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1---------------SFETKEQGSPEK--->-<---ARSSSSPQH-----L------------524
KCNB2---------------SFENKYQEVSQKDSH>E<QLNNTSSSSPQH-----L------------535
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1---------------CHE------------>-<----F------------T------------494
KCND2---------------NHE------------>-<----F------------V------------494
KCND3LVDDPLLSVRTSTIKNHE------------>-<----F------------I------------511
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3---------------ENCTA---------->-<------------------------------490
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D446Ec.1338C>G Inherited ArrhythmiaLQTSrs199472780SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Inherited ArrhythmiaLQTS Next generation sequencing for molecular confirmation of hereditary sudden cardiac death syndromes. Arch Cardiol Mex. 2015 85(1):68-72. doi: 10.1016/j.acmx.2014.12.006. 25661095
p.D446Nc.1336G>A Putative Benignrs149089817SIFT: deleterious
Polyphen: possibly damaging