Paralogue Annotation for KCNQ1 residue 7

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 7
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to KCNQ1 residue 7

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2M1TEpilepsy, benign neonatalMedium1 14985406
KCNQ2M1VEpilepsy, benign neonatalMedium1 14985406

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------------------------------>P<-PRAER-KRWGWGRL----PG---------22
KCNQ2------------------------------>M<---------VQKSR----NGG---------9
KCNQ3------------------------------>M<-GLKAR-RAAGAAG----GGG---------16
KCNQ4------------------------------>M<-------------AEA-PPRR---------8
KCNQ5------------------------------>A<-AGLWV-KSGAAAAAA-GGGR---------31
KCNA1------------------------------>M<TVMSGE---------N--V-D---------10
KCNA10-----------------------FSNGKIL>I<SE-STN---------H--E-T---------61
KCNA2------------------------------>M<TVATGD---------P--A-D---------10
KCNA3-----------------------GRELPPD>M<TVVPGD---------H--L-L---------62
KCNA4EKKKAHYRQSSFPHCSDLMPSGSEEKILRE>L<SEEEED---------E--E-EEEEEEEEGR139
KCNA5-----------------------ADSGVRP>L<PPLPDP---------G--V-R---------76
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<EP-------------R--C-P---------6
KCNB1------------------------------>-<----PA---------G--------------4
KCNB2------------------------------>-<---APP---------G--------------8
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3-----------------------GASKQQP>A<PPPQPPESPPPPPLPP--Q-Q---------40
KCNC4-----------------------SGNKPPS>-<------------------------------21
KCND1------------------------------>-<---RAA---------A--V-G---------18
KCND2------------------------------>-<---RAA---------A--I-G---------18
KCND3------------------------------>-<---RAA---------A--I-G---------18
KCNF1------------------------------>-<----ER---------S--------------8
KCNG1------------------------------>-<----GD---------NSDY-D---------12
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<----RD---------GGLHPR---------13
KCNS1------------------------------>-<----VR---------G--------------8
KCNS2------------------------------>-<----LW---------D--------------8
KCNS3------------------------------>-<----FF------------------------7
KCNV1------------------------------>-<---GRA---------L--------------8
KCNV2------------------------------>Q<ASIHGW---------T--E-G---------49
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P7Sc.19C>T Inherited ArrhythmiaLQTSrs199473443SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. Heart Rhythm. 2008 5(5):704-9. 18452873
Inherited 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 The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833