Paralogue Annotation for ANK2 residue 379

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 379
Reference Amino Acid: R - Arginine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 379

No paralogue variants have been mapped to residue 379 for ANK2.

ANK2	KHLLQHKAPVDDVTLDYLTALHVAAHCGHY>R<VTKLLLDKRANPNARALNGFTPLHIACKKN	409
ANK1	RLLLQYDAEIDDITLDHLTPLHVAAHCGHH>R<VAKVLLDKGAKPNSRALNGFTPLHIACKKN	382
ANK3	QLLLQHNVPVDDVTNDYLTALHVAAHCGHY>K<VAKVLLDKKANPNAKALNGFTPLHIACKKN	411
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R379C	c.1135C>T	Putative Benign		rs143043717	SIFT: Polyphen: probably damaging
p.R379H	c.1136G>A	Putative Benign		rs186264035	SIFT: Polyphen: probably damaging
p.R379L	c.1136G>T	Benign		rs186264035	SIFT: deleterious Polyphen: probably damaging