Paralogue Annotation for KCNQ1 residue 590

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 590
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 590

No paralogue variants have been mapped to residue 590 for KCNQ1.



KCNQ1-----------------SEKSKDRGSNTIG>A<RLNRVEDKVTQLDQRLALITDMLHQLLSLH620
KCNQ2-----------------PAEAELPEDPSMM>G<RLGKVEKQVLSMEKKLDFLVNIYMQRMGIP651
KCNQ3FTFPSQQSPRNEPYVARPSTSEI-EDQSMM>G<KFVKVERQVQDMGKKLDFLVDMHMQHMERL650
KCNQ4-----------------PSDAEVVDEISMM>G<RVVKVEKQVQSIEHKLDLLLGFYSRCLRSG647
KCNQ5-----------------TAEHETTDDLSML>G<RVVKVEKQVQSIESKLDCLLDIYQQVLRKG634
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.A590Tc.1768G>A Inherited ArrhythmiaLQTSrs199472813SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. J Am Coll Cardiol. 2004 43(5):826-30. 14998624
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
Other Cardiac Phenotype [Mutational analysis of LQT genes in individuals with drug induced QT interval prolongation]. Vnitr Lek. 2006 52(2):116-8. 16623272
Inherited ArrhythmiaLQTS A subset of dorsal neurons modulates circadian behavior and light responses in Drosophila. Neuron. 2007 53(5):689-701. 17329209
Inherited ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS Structural insight into KCNQ (Kv7) channel assembly and channelopathy. Neuron. 2007 53(5):663-75. 17329207
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 A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction. J Mol Cell Cardiol. 2014 72:273-80. doi: 10.1016/j.yjmcc.2014.03.019. 24713462