Paralogue Annotation for KCNQ1 residue 562

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 562
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 562

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2R588SEpilepsy, benign neonatalMedium2 25982755

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.



KCNQ1ARKPYDVRDVIEQYSQGHLNLMVRIKELQR>R<LDQSIGKPSLFIS-----------V-----576
KCNQ2SLRPYDVMDVIEQYSAGHLDMLSRIKSLQS>R<VDQIVGRGPAITD--KDR--T--KG-----607
KCNQ3TLRPYDVKDVIEQYSAGHLDMLSRIKYLQT>R<IDMIFTPGPPSTP--KHKKSQKGSAFTFPS595
KCNQ4TLRPYDVKDVIEQYSAGHLDMLGRIKSLQT>R<VDQIVGRGPGDRKAREKG--D--KG-----603
KCNQ5TLRPYDVKDVIEQYSAGHLDMLCRIKSLQT>R<VDQILGKGQITSD-KKSR--E--KI-----590
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1PSPLLPVLGMYHDPLRNRGSAAAAVAGLEC>A<------------------------------711
KCNB2PSTARPLPVTTADFSLTTPQHISTILLEET>P<------------------------------761
KCNC1GGGMRK----------DLCKESP---VIAK>Y<------------------------------576
KCNC2DGGIRKG----YEKSRSLNNIAGLAGNALR>L<------------------------------614
KCNC3DGSIRKATGAPPLPPQDWRKPGPPS-FLPD>L<------------------------------747
KCNC4DGSVRKG----TFVLRDLPLQHSP---EAA>C<------------------------------624
KCND1RSHAPQSRSSLNAKPHDSLDLNCDSRDFVA>A<------------------------------597
KCND2RTPLSNSRSSLNAKMEECVKLNCEQPYVTT>A<------------------------------596
KCND3QPSLTTSRSSLNLKADDGLRPNCKTSQITT>A<------------------------------613
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3------------------------------>-<------------------------------
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R562Mc.1685G>T Inherited ArrhythmiaLQTSrs199472802SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525
Inherited ArrhythmiaLQTS Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695
Inherited ArrhythmiaLQTS Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIPâ‚‚. J Cell Sci. 2014 127(Pt 18):3943-55. doi: 10.1242/jcs.147033. 25037568
Inherited ArrhythmiaLQTS RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159
p.R562Sc.1686G>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing. J Electrocardiol. 2012 22727609
p.R562Sc.1686G>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430