Paralogue Annotation for ANK2 residue 3258

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3258
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to ANK2 residue 3258

No paralogue variants have been mapped to residue 3258 for ANK2.



ANK2LTRSVYSDRGDDSPDSSPEEQKSVIEIPTA>P<MENVPFTESKSKIPVRTMPTSTPAPPSAEY3288
ANK1------------------------------>-<------------------------------
ANK3FQKDNFNNN--NNLDSSTIQTDNI------>-<MSNIVLTEH--SAPTCTTEKDNPVKVSSGK3830
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P3258Rc.9773C>G 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