Paralogue Annotation for KCNE1 residue 93

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 93
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 93

No paralogue variants have been mapped to residue 93 for KCNE1.

KCNE1	SYIRSKKLEHSNDPFNVYIESDA-WQEKDK>A<YVQARVLESYRSCYVV--------------	109
KCNE2	STVKSKRREHSNDPYHQYIVED--WQEKYK>S<QILNL-------------------------	103
KCNE3	GYTRSRKVDKRSDPYHVYIKN--------->-<------------------------------	98
KCNE4	GYMKSKRREKKSSLLLLYKDEERLWGEAMK>P<LPVVSGLRSVQVPLMLNMLQESVAPALSCT	116
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See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A93T	c.277G>A	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. BMC Med Genet. 2014 15:31. doi: 10.1186/1471-2350-15-31. 24606995