Paralogue Annotation for ANK2 residue 596

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 596
Reference Amino Acid: G - Glycine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 596

No paralogue variants have been mapped to residue 596 for ANK2.

ANK2	PLHVAAKYGSLDVAKLLLQRRAAADSAGKN>G<LTPLHVAAHYDNQKVALLLLEKGASPHATA	626
ANK1	PLHVAAKYGKVRVAELLLERDAHPNAAGKN>G<LTPLHVAVHHNNLDIVKLLLPRGGSPHSPA	599
ANK3	PLHVAAKYGKLEVANLLLQKSASPDAAGKS>G<LTPLHVAAHYDNQKVALLLLDQGASPHAAA	628
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G596S	c.1786G>A	Putative Benign		rs377076801	SIFT: deleterious Polyphen: probably damaging
p.G596C	c.1786G>T	Putative Benign			SIFT: Polyphen: