Paralogue Annotation for ANK2 residue 704

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 704
Reference Amino Acid: Q - Glutamine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 704

No paralogue variants have been mapped to residue 704 for ANK2.

ANK2	HTDMVTLLLDKGANIHMSTKSGLTSLHLAA>Q<EDKVNVADILTKHGADQDAHTKLGYTPLIV	734
ANK1	HAEMVALLLSKQANGNLGNKSGLTPLHLVA>Q<EGHVPVADVLIKHGVMVDATTRMGYTPLHV	707
ANK3	HVDMVSLLLGRNANVNLSNKSGLTPLHLAA>Q<EDRVNVAEVLVNQGAHVDAQTKMGYTPLHV	736
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q704E	c.2110C>G	Putative Benign		rs139197937	SIFT: Polyphen: probably damaging