Paralogue Annotation for KCNE1 residue 39

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 39
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE1 residue 39

No paralogue variants have been mapped to residue 39 for KCNE1.

KCNE1	---T------VQQGGN-MSGLA-RRSPRSS>D<GKLEALYVLMVLGFFGFFTLGIMLSYIRSK	69
KCNE2	YMDNW----RQNTTAEQEALQA-KVDAENF>Y<--YVILYLMVMIGMFSFIIVAILVSTVKSK	75
KCNE3	LHSNLLCRPGPGLGPD-NQTEERRASLPGR>-<DDNSYMYILFVMFLFAVTVGSLILGYTRSR	83
KCNE4	PLNST----HPGTAASSSPLES-RAAGGGS>G<NGNEYFYILVVMSFYGIFLIGIMLGYMKSK	61
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See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D39N	c.115G>A	Putative Benign		rs199473352	SIFT: tolerated Polyphen: benign
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