Paralogue Annotation for ANK2 residue 2148

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2148
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2148

No paralogue variants have been mapped to residue 2148 for ANK2.

ANK2	QQFRLSEETEKAQLHLDQVLTSPFNTTFPL>D<YMKDEFLPA---------------LSLQSG	2163
ANK1	------------------------------>-<------------------------------
ANK3	SREKIATAPKKEILSKIYKDVSENGVGKVS>K<DEHFDKVTVLHYSGNVSSPKHAMWMRFTED	2562
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2148E	c.6444C>A	Putative Benign		rs60228337	SIFT: tolerated Polyphen: probably damaging
p.D2148E	c.6444C>G	Putative Benign		rs60228337	SIFT: tolerated Polyphen: benign
p.D2148N	c.6442G>A	Putative Benign			SIFT: tolerated Polyphen: possibly damaging
p.D2148G	c.6443A>G	Putative Benign			SIFT: Polyphen: