Paralogue Annotation for ANK2 residue 2983

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2983
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2983

No paralogue variants have been mapped to residue 2983 for ANK2.

ANK2	SNFEGQDIKMESQQESTLWEMQSDSVSSSF>E<PTMSATTTVVGEQIS---KVIITKTDVDSD	3010
ANK1	------------------------------>-<------------------------------
ANK3	-----------VFPD--------------->-<--TYFSYK-VDEEFATPFKT-VATKGLDFD	3543
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2983K	c.8947G>A	Benign		rs149963885	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