Paralogue Annotation for KCNE1 residue 49

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 49
Reference Amino Acid: M - Methionine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNE1 residue 49

No paralogue variants have been mapped to residue 49 for KCNE1.

KCNE1	VQQGGN-MSGLA-RRSPRSSDGKLEALYVL>M<VLGFFGFFTLGIMLSYIRSKKLEHSNDPFN	79
KCNE2	QNTTAEQEALQA-KVDAENFY--YVILYLM>V<MIGMFSFIIVAILVSTVKSKRREHSNDPYH	85
KCNE3	PGLGPD-NQTEERRASLPGR-DDNSYMYIL>F<VMFLFAVTVGSLILGYTRSRKVDKRSDPYH	93
KCNE4	PGTAASSSPLES-RAAGGGSGNGNEYFYIL>V<VMSFYGIFLIGIMLGYMKSKRREKKSSLLL	71
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M49I	c.147G>A	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430