Paralogue Annotation for ANK2 residue 2546

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2546
Reference Amino Acid: K - Lysine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 2546

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
ANK3L3218FIntellectual disability, cerebral & cerebellar atrMedium4 26539891

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in ANK2.



ANK2VS--------TPKPAVIHECAEEDDSENGE>K<KRFTPEEEMFKMVTKIKMFDELEQEAKQKR2576
ANK1------------------------------>-<------------------------------
ANK3SLIAYIPGKPSPIPEVSEESEEEEQAKSTS>L<KQTTVEETAVEREM----------PNDVSK3238
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

There are currently no reported variants at residue 2546 for ANK2.