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.



ANK2MSTKSGLTSLHLAAQEDKVNVADILTKHGA>D<QDAHTKLGYTPLIVACHYGNVKMVNFLLKQ750
ANK1LGNKSGLTPLHLVAQEGHVPVADVLIKHGV>M<VDATTRMGYTPLHVASHYGNIKLVKFLLQH723
ANK3LSNKSGLTPLHLAAQEDRVNVAEVLVNQGA>H<VDAQTKMGYTPLHVGCHYGNIKIVNFLLQH752
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D720Ec.2160T>A Putative BenignSIFT:
Polyphen:
ReportsUnknown 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