Paralogue Annotation for KCNE2 residue 9

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 9
Reference Amino Acid: Q - Glutamine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE2 residue 9

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE1A8VLong QT syndromeLow2 17341399, 24400172, 25637381

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.Q9Ec.25C>G ConflictSIFT: tolerated
Polyphen: benign
ReportsOther Cardiac Phenotype MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell. 1999 97(2):175-87. 10219239
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
Inherited ArrhythmiaLQTS Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839
Other Cardiac Phenotype A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092
p.Q9Rc.26A>G Putative BenignSIFT: