Paralogue Annotation for ANK2 residue 1395

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1395
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 1395

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
ANK1L1340PSpherocytosisHigh9 24903897

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.



ANK2HHIFSFFAFKENRLPLFVKVRDTTQEPCGR>L<SFMKEPKSTRGLVHQAICNLNITLPIYTKE1425
ANK1QRSFHFQSFRENRLAMPVKVRDSSREPGGS>L<SFLRKAMKYEDTQ-HILCHLNITMPPCAKG1369
ANK3QLVFNFYSFKENRLPFSIKIRDTSQEPCGR>L<SFLKEPKTTKGLPQTAVCNLNITLPAHKKE1442
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

There are currently no reported variants at residue 1395 for ANK2.