Paralogue Annotation for ANK2 residue 720

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 720
Reference Amino Acid: D - Aspartate
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 720

No paralogue variants have been mapped to residue 720 for ANK2.

ANK2	MSTKSGLTSLHLAAQEDKVNVADILTKHGA>D<QDAHTKLGYTPLIVACHYGNVKMVNFLLKQ	750
ANK1	LGNKSGLTPLHLVAQEGHVPVADVLIKHGV>M<VDATTRMGYTPLHVASHYGNIKLVKFLLQH	723
ANK3	LSNKSGLTPLHLAAQEDRVNVAEVLVNQGA>H<VDAQTKMGYTPLHVGCHYGNIKIVNFLLQH	752
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D720E	c.2160T>A	Putative Benign			SIFT: Polyphen:
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510