Paralogue Annotation for KCNE2 residue 20

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 20
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE2 residue 20

No paralogue variants have been mapped to residue 20 for KCNE2.

KCNE2	MSTLSN---FTQTLEDVFRRIF>I<TYMDNW----RQNTTAEQEALQA-KVDAEN	45
KCNE1	--MILS---NTTAVTPFLTKLW>Q<E---T------VQQGGN-MSGLA-RRSPRS	37
KCNE3	METTNGTETWYESLHAVLKALN>A<TLHSNLLCRPGPGLGPD-NQTEERRASLPG	52
KCNE4	-------------------MLK>M<EPLNST----HPGTAASSSPLES-RAAGGG	29
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I20N	c.59T>A	Inherited Arrhythmia	LQTS	rs199473363	SIFT: deleterious Polyphen: possibly damaging
Reports		Inherited Arrhythmia	LQTS	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085