Paralogue Annotation for ANK2 residue 248

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 248
Reference Amino Acid: V - Valine
Protein Domain: Ankyrin domain region


Paralogue Variants mapped to ANK2 residue 248

No paralogue variants have been mapped to residue 248 for ANK2.



ANK2ADVQSKMMVNRTTESGFTPLHIAAHYGNVN>V<ATLLLNRGAAVDFTARNGITPLHVASKRGN278
ANK1PDVLSK--------TGFTPLHIAAHYENLN>V<AQLLLNRGASVNFTPQNGITPLHIASRRGN251
ANK3ADVESK--------SGFTPLHIAAHYGNIN>V<ATLLLNRAAAVDFTARNDITPLHVASKRGN280
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V248Mc.742G>A Putative BenignSIFT:
Polyphen: