Paralogue Annotation for ANK2 residue 490

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 490
Reference Amino Acid: V - Valine
Protein Domain: Ankyrin domain region


Paralogue Variants mapped to ANK2 residue 490

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
ANK1V463ISpherocytosisHigh9 8640229

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.



ANK2TNIRGETALHMAARAGQVEVVRCLLRNGAL>V<DARAREEQTPLHIASRLGKTEIVQLLLQHM520
ANK1SNVKVETPLHMAARAGHTEVAKYLLQNKAK>V<NAKAKDDQTPLHCAARIGHTNMVKLLLENN493
ANK3TNVRGETALHMAARSGQAEVVRYLVQDGAQ>V<EAKAKDDQTPLHISARLGKADIVQQLLQQG522
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

There are currently no reported variants at residue 490 for ANK2.