Paralogue Annotation for KCNE2 residue 23

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 23
Reference Amino Acid: M - Methionine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNE2 residue 23

No paralogue variants have been mapped to residue 23 for KCNE2.



KCNE2MSTLSN---FTQTLEDVFRRIFITY>M<DNW----RQNTTAEQEALQA-KVDAENFY-47
KCNE1--MILS---NTTAVTPFLTKLWQE->-<-T------VQQGGN-MSGLA-RRSPRSSDG40
KCNE3METTNGTETWYESLHAVLKALNATL>H<SNLLCRPGPGLGPD-NQTEERRASLPGR-D54
KCNE4-------------------MLKMEP>L<NST----HPGTAASSSPLES-RAAGGGSGN32
cons                         > <                              

See full Alignment of Paralogues


Known Variants in KCNE2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M23Lc.67A>T Inherited ArrhythmiaAFSIFT:
Polyphen:
ReportsInherited ArrhythmiaAF Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. Heart Rhythm. 2014 11(2):246-51. doi: 10.1016/j.hrthm.2013.10.034. 24144883
Inherited ArrhythmiaAF Gain-of-function mutations in potassium channel subunit KCNE2 associated with early-onset lone atrial fibrillation. Biomark Med. 2014 8(4):557-70. doi: 10.2217/bmm.13.137. 24796621