Paralogue Annotation for ANK2 residue 47

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 47
Reference Amino Acid: V - Valine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 47

No paralogue variants have been mapped to residue 47 for ANK2.

ANK2	-SSQ-RRKRPKKSDSNASFLRAARAGNLDK>V<VEYLKGGIDINTCNQNGLNALHLAAKEGHV	77
ANK1	----------READAATSFLRAARSGNLDK>A<LDHLRNGVDINTCNQNGLNGLHLASKEGHV	58
ANK3	KHRKRSRDRKKKSDANASYLRAARAGHLEK>A<LDYIKNGVDINICNQNGLNALHLASKEGHV	87
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V47A	c.140T>C	Putative Benign			SIFT: tolerated Polyphen: probably damaging