Paralogue Annotation for KCNQ1 residue 583

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 583
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 583

No paralogue variants have been mapped to residue 583 for KCNQ1.



KCNQ1------V-----------------SEKSKD>R<GSNTIGARLNRVEDKVTQLDQRLALITDML613
KCNQ2--T--KG-----------------PAEAEL>P<EDPSMMGRLGKVEKQVLSMEKKLDFLVNIY644
KCNQ3KSQKGSAFTFPSQQSPRNEPYVARPSTSEI>-<EDQSMMGKFVKVERQVQDMGKKLDFLVDMH643
KCNQ4--D--KG-----------------PSDAEV>V<DEISMMGRVVKVEKQVQSIEHKLDLLLGFY640
KCNQ5--E--KI-----------------TAEHET>T<DDLSMLGRVVKVEKQVQSIESKLDCLLDIY627
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.R583Cc.1747C>T Inherited ArrhythmiaLQTSrs17221854SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Other Cardiac Phenotype Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002 105(16):1943-8. 11997281
Inherited ArrhythmiaLQTS Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 82(3):182-8. 14760488
p.R583Hc.1748G>A Inherited ArrhythmiaLQTSrs199473482SIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome. Heart Rhythm. 2004 1(3):285-92. 15851171
Inherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
p.R583Gc.1747C>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. BMC Med Genet. 2014 15:31. doi: 10.1186/1471-2350-15-31. 24606995