Paralogue Annotation for ANK2 residue 573

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 573
Reference Amino Acid: Y - Tyrosine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 573

No paralogue variants have been mapped to residue 573 for ANK2.

ANK2	VDVASVLLEAGAAHSLATKKGFTPLHVAAK>Y<GSLDVAKLLLQRRAAADSAGKNGLTPLHVA	603
ANK1	VETVLALLEKEASQACMTKKGFTPLHVAAK>Y<GKVRVAELLLERDAHPNAAGKNGLTPLHVA	576
ANK3	EDVAAFLLDHGASLSITTKKGFTPLHVAAK>Y<GKLEVANLLLQKSASPDAAGKSGLTPLHVA	605
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y573H	c.1717T>C	Putative Benign			SIFT: Polyphen:
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