Paralogue Annotation for ANK2 residue 717

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 717
Reference Amino Acid: H - Histidine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 717

No paralogue variants have been mapped to residue 717 for ANK2.

ANK2	NIHMSTKSGLTSLHLAAQEDKVNVADILTK>H<GADQDAHTKLGYTPLIVACHYGNVKMVNFL	747
ANK1	NGNLGNKSGLTPLHLVAQEGHVPVADVLIK>H<GVMVDATTRMGYTPLHVASHYGNIKLVKFL	720
ANK3	NVNLSNKSGLTPLHLAAQEDRVNVAEVLVN>Q<GAHVDAQTKMGYTPLHVGCHYGNIKIVNFL	749
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H717Y	c.2149C>T	Putative Benign			SIFT: Polyphen:
p.H717P	c.2150A>C	Putative Benign			SIFT: Polyphen: