Paralogue Annotation for ANK2 residue 3798

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3798
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3798

No paralogue variants have been mapped to residue 3798 for ANK2.

ANK2	VSTPAEEEKLYLQTPTSSERGGSPIIQEPE>E<P-------------SEHREESSPRKTSLVI	3815
ANK1	V---------T-QGPHSF--QGTSTMTEGL>E<PGGSQEYEKVLVSVSEHTWTEQPEAESSQA	1773
ANK3	QNDVGKQS--T-KETLKPKIHGSGHVEEPA>S<P-------------LAAYQKSLEETSKLII	4315
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3798D	c.11394G>T	Putative Benign		rs144046572	SIFT: Polyphen: benign
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510