Paralogue Annotation for KCNE1 residue 79

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 79
Reference Amino Acid: N - Asparagine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 79

No paralogue variants have been mapped to residue 79 for KCNE1.

KCNE1	MVLGFFGFFTLGIMLSYIRSKKLEHSNDPF>N<VYIESDA-WQEKDKAYVQARVLESYRSCYV	108
KCNE2	VMIGMFSFIIVAILVSTVKSKRREHSNDPY>H<QYIVED--WQEKYKSQILNL----------	103
KCNE3	FVMFLFAVTVGSLILGYTRSRKVDKRSDPY>H<VYIKN-------------------------	98
KCNE4	VVMSFYGIFLIGIMLGYMKSKRREKKSSLL>L<LYKDEERLWGEAMKPLPVVSGLRSVQVPLM	101
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See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N79D	c.235A>G	Putative Benign		rs199473358	SIFT: deleterious Polyphen: probably 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