Paralogue Annotation for ANK2 residue 2818

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2818
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2818

No paralogue variants have been mapped to residue 2818 for ANK2.

ANK2	DTEGEELDVSRAESPQADCPSESFSSSSSL>P<HCLVSEGKELDEDISATSSIQKTEVTKTDE	2848
ANK1	------------------------------>-<------------------------------
ANK3	-----------------------GNNDQSI>T<ECSIATTAEFSHDTDATEIDSLDGYDLQDE	3423
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2818S	c.8452C>T	Putative Benign		rs137856530	SIFT: Polyphen: benign
p.P2818L	c.8453C>T	Putative Benign		rs368569512	SIFT: deleterious Polyphen: benign