Paralogue Annotation for ANK2 residue 3809

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3809
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 3809

No paralogue variants have been mapped to residue 3809 for ANK2.



ANK2IIQEPEEP-------------SEHREESSP>R<KTSLVIVESAD--NQPE-TCERLDEDAAFE3836
ANK1TMTEGLEPGGSQEYEKVLVSVSEHTWTEQP>E<AESSQADRDRRQQGQEEQVQEAKNTFTQVV1797
ANK3HVEEPASP-------------LAAYQKSLE>E<TSKLIIEETKP--CVPV-SMKKMSRTSPAD4336
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3809Wc.11425C>T Putative BenignSIFT:
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.R3809Qc.11426G>A Putative BenignSIFT:
Polyphen: