Paralogue Annotation for ANK2 residue 594

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 594
Reference Amino Acid: K - Lysine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 594

No paralogue variants have been mapped to residue 594 for ANK2.

ANK2	FTPLHVAAKYGSLDVAKLLLQRRAAADSAG>K<NGLTPLHVAAHYDNQKVALLLLEKGASPHA	624
ANK1	FTPLHVAAKYGKVRVAELLLERDAHPNAAG>K<NGLTPLHVAVHHNNLDIVKLLLPRGGSPHS	597
ANK3	FTPLHVAAKYGKLEVANLLLQKSASPDAAG>K<SGLTPLHVAAHYDNQKVALLLLDQGASPHA	626
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K594E	c.1780A>G	Putative Benign		rs369089532	SIFT: deleterious Polyphen: possibly damaging