Paralogue Annotation for KCNE2 residue 10

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 10
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNE2 residue 10

No paralogue variants have been mapped to residue 10 for KCNE2.



KCNE2MSTLSN---FTQ>T<LEDVFRRIFITYMDNW----RQNTTAEQEA36
KCNE1--MILS---NTT>A<VTPFLTKLWQE---T------VQQGGN-MS28
KCNE3METTNGTETWYE>S<LHAVLKALNATLHSNLLCRPGPGLGPD-NQ42
KCNE4------------>-<------MLKMEPLNST----HPGTAASSSP20
cons            > <                              

See full Alignment of Paralogues


Known Variants in KCNE2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T10Mc.29C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Other Cardiac Phenotype A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance. Cardiovasc Res. 2008 77(1):98-106. 18006462
Unknown 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