Paralogue Annotation for ANK2 residue 3796

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3796
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to ANK2 residue 3796

No paralogue variants have been mapped to residue 3796 for ANK2.



ANK2EEVSTPAEEEKLYLQTPTSSERGGSPIIQE>P<EEP-------------SEHREESSPRKTSL3813
ANK1EEV---------T-QGPHSF--QGTSTMTE>G<LEPGGSQEYEKVLVSVSEHTWTEQPEAESS1771
ANK3ESQNDVGKQS--T-KETLKPKIHGSGHVEE>P<ASP-------------LAAYQKSLEETSKL4313
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P3796Lc.11387C>T UnknownSIFT:
Polyphen:
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