Paralogue Annotation for ANK2 residue 3817

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3817
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3817

No paralogue variants have been mapped to residue 3817 for ANK2.

ANK2	-------------SEHREESSPRKTSLVIV>E<SAD--NQPE-TCERLDEDAAFEKGDDMPEI	3844
ANK1	GGSQEYEKVLVSVSEHTWTEQPEAESSQAD>R<DRRQQGQEEQVQEAKNTFTQVVQGNEFQNI	1805
ANK3	-------------LAAYQKSLEETSKLIIE>E<TKP--CVPV-SMKKMSRTSPADGKPRLSLH	4344
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3817K	c.11449G>A	Putative Benign		rs143985655	SIFT: Polyphen: probably damaging