Paralogue Annotation for ANK2 residue 3252

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3252
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3252

No paralogue variants have been mapped to residue 3252 for ANK2.

ANK2	QLDFSTLTRSVYSDRGDDSPDSSPEEQKSV>I<EIPTAPMENVPFTESKSKIPVRTMPTSTPA	3282
ANK1	------------------------------>-<------------------------------
ANK3	HEK-HDFQKDNFNNN--NNLDSSTIQTDNI>-<------MSNIVLTEH--SAPTCTTEKDNPV	3824
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3252T	c.9755T>C	Benign		rs36210417	SIFT: deleterious Polyphen: probably damaging
p.I3252L	c.9754A>C	Putative Benign		rs144603824	SIFT: Polyphen: probably damaging