Paralogue Annotation for KCNQ1 residue 452

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 452
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 452

No paralogue variants have been mapped to residue 452 for KCNQ1.



KCNQ1---------TP-GEKMLTVPHITCDPPEER>R<L--------DHFSVDGYDSSVRKSPTLLEV474
KCNQ2---------AAKGKGSPQAQTVRRSPSADQ>S<LED-SPSKVPKSW--SFGDRSRARQAF---496
KCNQ3---------NTKGKL--------FTPLNVD>A<IEE-SPSKEPKPV--GLNNKERFRTAF---476
KCNQ4---------TGPSKQHLAPPTMPTSPSSEQ>V<GEATSPTKVQKSW--SFNDRTRFRASL---495
KCNQ5---------SIKSRQ--ASVGDRRSPSTDI>T<AEG-SPTKVQKSW--SFNDRTRFRPSL---477
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1---------SFETKEQGSPEK-------AR>S<SSSPQH-----L---------------NVQ527
KCNB2---------SFENKYQEVSQKDSHEQLNNT>S<SSSPQH-----L---------------SAQ538
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1---------CHE-----------------F>-<-----------T---------------DEL497
KCND2---------NHE-----------------F>-<-----------V---------------DEQ497
KCND3LSVRTSTIKNHE-----------------F>-<-----------I---------------DEQ514
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.R452Qc.1355G>A Putative Benignrs145229963SIFT: tolerated
Polyphen: possibly damaging
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
p.R452Wc.1354C>T Inherited ArrhythmiaLQTSrs140452381SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279
Inherited ArrhythmiaLQTS Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
p.Arg452Leuc.1355G>T UnknownSIFT:
Polyphen: