Paralogue Annotation for ANK2 residue 178

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 178
Reference Amino Acid: A - Alanine
Protein Domain: Ankyrin domain region


Paralogue Variants mapped to ANK2 residue 178

No paralogue variants have been mapped to residue 178 for ANK2.



ANK2YLLENGANQSTATEDGFTPLAVALQQGHNQ>A<VAILLENDTKGKVRLPALHIAARKDDTKSA208
ANK1FLLENGANQNVATEDGFTPLAVALQQGHEN>V<VAHLINYGTKGKVRLPALHIAARNDDTRTA189
ANK3FLLDNGASQSLATEDGFTPLAVALQQGHDQ>V<VSLLLENDTKGKVRLPALHIAARKDDTKAA218
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A178Vc.533C>T UnknownSIFT:
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