Paralogue Annotation for KCNQ1 residue 568

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 568
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 568

No paralogue variants have been mapped to residue 568 for KCNQ1.



KCNQ1VRDVIEQYSQGHLNLMVRIKELQRRLDQSI>G<KPSLFIS-----------V-----------576
KCNQ2VMDVIEQYSAGHLDMLSRIKSLQSRVDQIV>G<RGPAITD--KDR--T--KG-----------607
KCNQ3VKDVIEQYSAGHLDMLSRIKYLQTRIDMIF>T<PGPPSTP--KHKKSQKGSAFTFPSQQSPRN601
KCNQ4VKDVIEQYSAGHLDMLGRIKSLQTRVDQIV>G<RGPGDRKAREKG--D--KG-----------603
KCNQ5VKDVIEQYSAGHLDMLCRIKSLQTRVDQIL>G<KGQITSD-KKSR--E--KI-----------590
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1VLGMYHDPLRNRGSAAAAVAGLECA----->-<------------------------------711
KCNB2LPVTTADFSLTTPQHISTILLEETP----->-<------------------------------761
KCNC1----------DLCKESP---VIAKY----->-<------------------------------576
KCNC2G----YEKSRSLNNIAGLAGNALRL----->-<------------------------------614
KCNC3ATGAPPLPPQDWRKPGPPS-FLPDL----->-<------------------------------747
KCNC4G----TFVLRDLPLQHSP---EAAC----->-<------------------------------624
KCND1SRSSLNAKPHDSLDLNCDSRDFVAA----->-<------------------------------597
KCND2SRSSLNAKMEECVKLNCEQPYVTTA----->-<------------------------------596
KCND3SRSSLNLKADDGLRPNCKTSQITTA----->-<------------------------------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.G568Ac.1703G>C Inherited ArrhythmiaLQTSrs199472806SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death. Clin Genet. 2003 63(4):273-82. 12702160
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.G568Rc.1702G>A Inherited ArrhythmiaLQTS,JLNSrs199472807SIFT: 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 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 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429
Inherited ArrhythmiaJLNS Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet. 2013 6(2):193-200. doi: 10.1161/CIRCGENETICS.112.964684 23392653
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.G568Ec.1703G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? Pediatr Cardiol. 2016 37(5):962-70. doi: 10.1007/s00246-016-1378-7. 27041096