Paralogue Annotation for ANK2 residue 2040

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2040
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2040

No paralogue variants have been mapped to residue 2040 for ANK2.

ANK2	---KRGQRLPVTGTAESKR-----GVRVSS>I<GVKKEDAAGGKEKVL------------SHK	2058
ANK1	------------------------------>-<------------------------------
ANK3	CSEEQGQQEEEELTAEESLPSYLESSRVNT>P<VSQEEDSRPSSAQLISDDSYKTLKLLSQHS	2445
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2040V	c.6118A>G	Putative Benign			SIFT: Polyphen: