Paralogue Annotation for KCNJ2 residue 67

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 67
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNJ2 residue 67

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11R54HHyperinsulinismHigh8 23345197

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 KCNJ2.

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See full Alignment of Paralogues

Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R67Qc.200G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007 28(2):208. 17221872
Inherited ArrhythmiaLQTS KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties. Heart Rhythm. 2007 4(3):323-9. 17341397
Inherited ArrhythmiaLQTS KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia. Heart Rhythm. 2014 11(5):885-94. doi: 10.1016/j.hrthm.2014.02.015. 24561538
p.R67Wc.199C>T Inherited ArrhythmiaLQTS,CPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet. 2002 71(3):663-8. 12148092
Inherited ArrhythmiaLQTS PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003 60(11):1811-6. 12796536
Inherited ArrhythmiaCPVT Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm. 2004 1(2):235-41. 15851159
Inherited ArrhythmiaLQTS Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 65(7):1083-9. 16217063
Inherited ArrhythmiaLQTS Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007 28(2):208. 17221872
Inherited ArrhythmiaLQTS Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. Muscle Nerve. 2012 46(2):193-203. doi: 10.1002/mus.23293. 22806368
Inherited 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
Inherited ArrhythmiaLQTS New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405
Unknown Gender differences in arrhythmias. Clin Cardiol. 2002 25(2):49-56. 11841151