Paralogue Annotation for ANK2 residue 1022

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1022
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to ANK2 residue 1022

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
ANK1E967KSpherocytosisHigh9 26830532

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.



ANK2IIPPRKCTAPTRVTCRLVKRHRLATMPPMV>E<GEGLASRLIEVGPSGAQFLGPVIVEIPHFA1052
ANK1VIPPRTCAAPTRITCRLVKPQKLSTPPPLA>E<EEGLASRIIALGPTGAQFLSPVIVEIPHFA997
ANK3IIPPRKCTAPTRITCRLVKRHKLANPPPMV>E<GEGLASRLVEMGPAGAQFLGPVIVEIPHFG1068
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

There are currently no reported variants at residue 1022 for ANK2.