Paralogue Annotation for ANK2 residue 2590

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2590
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 2590

No paralogue variants have been mapped to residue 2590 for ANK2.



ANK2TKIKMFDELEQEAKQKRDYKKEPKQEESSS>S<SD-----PDADCSVDVDEPKHTGSGEDESG2615
ANK1------------------------------>-<------------------------------
ANK3M----------PNDVSKDSNQRPKNNRVAY>I<EFPPPPPLDADQ-IESDKKHHYLPEKEVDM3281
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S2590Cc.7769C>G Putative Benignrs116253689SIFT: deleterious
Polyphen: possibly damaging
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