Paralogue Annotation for ANK2 residue 2390

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2390
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 2390

No paralogue variants have been mapped to residue 2390 for ANK2.



ANK2PQGL----------ELALPSRD---SEVLS>A<VADDSL-------------AVS-------H2400
ANK1------------------------------>-<------------------------------
ANK3RRMLSSNIPDGFCEQSAFPKHELSQKLSQS>S<MSKETVETQHFNSIEDEKVTYSEISKVSKH3028
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A2390Tc.7168G>A BenignSIFT: tolerated
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
p.A2390Sc.7168G>T Putative BenignSIFT:
Polyphen: