Paralogue Annotation for KCNE1 residue 53

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 53
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNE1 residue 53

No paralogue variants have been mapped to residue 53 for KCNE1.

KCNE1	GN-MSGLA-RRSPRSSDGKLEALYVLMVLG>F<FGFFTLGIMLSYIRSKKLEHSNDPFNVYIE	83
KCNE2	AEQEALQA-KVDAENFY--YVILYLMVMIG>M<FSFIIVAILVSTVKSKRREHSNDPYHQYIV	89
KCNE3	PD-NQTEERRASLPGR-DDNSYMYILFVMF>L<FAVTVGSLILGYTRSRKVDKRSDPYHVYIK	97
KCNE4	ASSSPLES-RAAGGGSGNGNEYFYILVVMS>F<YGIFLIGIMLGYMKSKRREKKSSLLLLYKD	75
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F53S	c.158T>C	Inherited Arrhythmia	LQTS	rs199473355	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
p.Phe53Cys	c.158T>G	Unknown			SIFT: Polyphen: