Paralogue Annotation for ANK2 residue 3535

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3535
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 3535

No paralogue variants have been mapped to residue 3535 for ANK2.



ANK2IWDESIETLIERIPDENGHDHAEDPQDEQE>R<IEERLAYIADHLGFSWTELARELDFTEEQI3565
ANK1-----------------------GSLSGTE>Q<AEMKMAVISEHLGLSWAELARELQFSVEDI1432
ANK3EAA-PLKSKSEKAGSEKRSSRRTGPQSPCE>R<TDIRMAIVADHLGLSWTELARELNFSVDEI4119
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3535Wc.10603C>T Putative Benignrs72556376SIFT: deleterious
Polyphen: probably 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
p.R3535Qc.10604G>A Putative Benignrs142612379SIFT:
Polyphen: probably damaging