Paralogue Annotation for KCNE1 residue 55

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 55
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNE1 residue 55

No paralogue variants have been mapped to residue 55 for KCNE1.

KCNE1	-MSGLA-RRSPRSSDGKLEALYVLMVLGFF>G<FFTLGIMLSYIRSKKLEHSNDPFNVYIESD	85
KCNE2	QEALQA-KVDAENFY--YVILYLMVMIGMF>S<FIIVAILVSTVKSKRREHSNDPYHQYIVED	91
KCNE3	-NQTEERRASLPGR-DDNSYMYILFVMFLF>A<VTVGSLILGYTRSRKVDKRSDPYHVYIKN-	98
KCNE4	SSPLES-RAAGGGSGNGNEYFYILVVMSFY>G<IFLIGIMLGYMKSKRREKKSSLLLLYKDEE	77
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G55S	c.163G>A	Inherited Arrhythmia	LQTS	rs199473644	SIFT: tolerated Polyphen: probably 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