Paralogue Annotation for KCNE2 residue 8

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 8
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE2 residue 8

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE1T7IJervell and Lange-Nielsen syndromeMedium3 9354783

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 KCNE2.

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See full Alignment of Paralogues

Known Variants in KCNE2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T8Ac.22A>G ConflictSIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci U S A. 2000 97(19):10613-8. 10984545
Inherited ArrhythmiaLQTS Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. Clin Chem. 2001 47(8):1390-5. 11468227
Inherited ArrhythmiaLQTS DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336
Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
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
Putative Benign Single nucleotide polymorphism map of five long-QT genes. J Mol Med (Berl). 2005 83(2):159-65. 15599693
Other Cardiac Phenotype Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064
Inherited ArrhythmiaLQTS Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839
p.T8Ic.23C>T Putative BenignSIFT: deleterious
Polyphen: probably damaging