Paralogue Annotation for KCNE1 residue 43

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 43
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE1 residue 43

No paralogue variants have been mapped to residue 43 for KCNE1.

KCNE1	------VQQGGN-MSGLA-RRSPRSSDGKL>E<ALYVLMVLGFFGFFTLGIMLSYIRSKKLEH	73
KCNE2	W----RQNTTAEQEALQA-KVDAENFY--Y>V<ILYLMVMIGMFSFIIVAILVSTVKSKRREH	79
KCNE3	LLCRPGPGLGPD-NQTEERRASLPGR-DDN>S<YMYILFVMFLFAVTVGSLILGYTRSRKVDK	87
KCNE4	T----HPGTAASSSPLES-RAAGGGSGNGN>E<YFYILVVMSFYGIFLIGIMLGYMKSKRREK	65
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E43N		Putative Benign			SIFT: deleterious Polyphen: possibly damaging
Reports		Putative Benign		Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants. EMBO J. 1999 18(15):4137-48. 10428953
p.E43K	c.127G>A	Putative Benign			SIFT: Polyphen: