Paralogue Annotation for ANK2 residue 518

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 518
Reference Amino Acid: Q - Glutamine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 518

No paralogue variants have been mapped to residue 518 for ANK2.

ANK2	ALVDARAREEQTPLHIASRLGKTEIVQLLL>Q<HMAHPDAATTNGYTPLHISAREGQVDVASV	548
ANK1	AKVNAKAKDDQTPLHCAARIGHTNMVKLLL>E<NNANPNLATTAGHTPLHIAAREGHVETVLA	521
ANK3	AQVEAKAKDDQTPLHISARLGKADIVQQLL>Q<QGASPNAATTSGYTPLHLSAREGHEDVAAF	550
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q518H	c.1554A>T	Putative Benign			SIFT: Polyphen: