Paralogue Annotation for ANK2 residue 539

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 539
Reference Amino Acid: R - Arginine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 539

No paralogue variants have been mapped to residue 539 for ANK2.

ANK2	KTEIVQLLLQHMAHPDAATTNGYTPLHISA>R<EGQVDVASVLLEAGAAHSLATKKGFTPLHV	569
ANK1	HTNMVKLLLENNANPNLATTAGHTPLHIAA>R<EGHVETVLALLEKEASQACMTKKGFTPLHV	542
ANK3	KADIVQQLLQQGASPNAATTSGYTPLHLSA>R<EGHEDVAAFLLDHGASLSITTKKGFTPLHV	571
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R539W	c.1615C>T	Putative Benign			SIFT: Polyphen: