Paralogue Annotation for KCNQ1 residue 587

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 587
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 587

No paralogue variants have been mapped to residue 587 for KCNQ1.



KCNQ1--V-----------------SEKSKDRGSN>T<IGARLNRVEDKVTQLDQRLALITDMLHQLL617
KCNQ2-KG-----------------PAEAELPEDP>S<MMGRLGKVEKQVLSMEKKLDFLVNIYMQRM648
KCNQ3GSAFTFPSQQSPRNEPYVARPSTSEI-EDQ>S<MMGKFVKVERQVQDMGKKLDFLVDMHMQHM647
KCNQ4-KG-----------------PSDAEVVDEI>S<MMGRVVKVEKQVQSIEHKLDLLLGFYSRCL644
KCNQ5-KI-----------------TAEHETTDDL>S<MLGRVVKVEKQVQSIESKLDCLLDIYQQVL631
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1------------------------------>-<------------------------------
KCNB2------------------------------>-<------------------------------
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1------------------------------>-<------------------------------
KCND2------------------------------>-<------------------------------
KCND3------------------------------>-<------------------------------
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.T587Mc.1760C>T Inherited ArrhythmiaLQTSrs120074189SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. Hum Genet. 1998 103(3):290-4. 9799083
Inherited ArrhythmiaLQTS Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. Circ Res. 1999 84(3):290-7. 10024302
Inherited ArrhythmiaLQTS Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus. J Mol Cell Cardiol. 2001 33(2):197-207. 11162126
Inherited 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 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 A subset of dorsal neurons modulates circadian behavior and light responses in Drosophila. Neuron. 2007 53(5):689-701. 17329209
Inherited ArrhythmiaLQTS Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142
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 Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clinical phenotype by impairment of KCNH2 membrane localization: evidence for clinically significant IKr-IKs alpha-subunit interaction. Heart Rhythm. 2009 6(12):1792-801. 19959132
Inherited ArrhythmiaLQTS Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. J Am Coll Cardiol. 2004 44(1):117-25. 15234419
Inherited ArrhythmiaLQTS Structural insight into KCNQ (Kv7) channel assembly and channelopathy. Neuron. 2007 53(5):663-75. 17329207
Inherited ArrhythmiaLQTS KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997 96(9):2778-81. 9386136
Inherited ArrhythmiaLQTS Trafficking-competent KCNQ1 variably influences the function of HERG long QT alleles. Heart Rhythm. 2010 7(7):973-80. 20348026
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 ArrhythmiaLQTS Fetal atrioventricular block and postpartum augmentative QT prolongation in a patient with long-QT syndrome with KCNQ1 mutation. J Cardiovasc Electrophysiol. 2010 21(10):1170-3. doi: 10.1111/j.1540-8167.2010.01758 20487114
p.T587Rc.1760C>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS A Common Mutation of Long QT Syndrome Type 1 in Japan. Circ J. 2015 79(9):2026-30. doi: 10.1253/circj.CJ-15-0342. 26118460