Paralogue Annotation for KCNE2 residue 119

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 119
Reference Amino Acid: F - Phenylalanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNE2 residue 119

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE1T125MLong QT syndromeMedium8 19716085, 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.



KCNE2--------EE-----SKATIHE--NIGAAG>F<KMS----------------P123
KCNE1--------EN-----HLAIEQP--NTHLPE>T<KPS----------------P129
KCNE3---------------RVSM----------->-<-------------------I103
KCNE4MEGDSVSSESSSPDVHLTIQEEGADDELEE>T<SETPLNESSEGSSENIHQNS170
cons                              > <                    

See full Alignment of Paralogues


Known Variants in KCNE2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F119Lc.357C>A Putative BenignSIFT: tolerated
Polyphen: benign
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510