Paralogue Annotation for ANK2 residue 1549

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1549
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 1549

No paralogue variants have been mapped to residue 1549 for ANK2.



ANK2---VKEDLEKVNEILRSGTCTRDESSVQSS>R<SE---------------------------R1552
ANK1------------------------------>-<------------------------------
ANK3FSSRTSPVTTAGSLLERSSITMTPPASPKS>N<INMYSSSLPFKSIITSAAPLISSPLKSVVS1680
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1549Wc.4645C>T BenignSIFT: deleterious
Polyphen: possibly damaging
p.R1549Qc.4646G>A BenignSIFT:
Polyphen: benign
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