Paralogue Annotation for ANK2 residue 1101

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1101
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 1101

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
ANK1L1046PSpherocytosisHigh9 9887280

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.



ANK2SWKEHFCDYTEDELNEILNGMDEVLDSPED>L<EKKRICRIITRDFPQYFAVVSRIKQDSNLI1131
ANK1VWKEHRSRYGESYLDQILNGMDEELGSLEE>L<EKKRVCRIITTDFPLYFVIMSRLCQDYDTI1076
ANK3TWKEHQFDSKNEDLTELLNGMDEELDSPEE>L<GKKRICRIITKDFPQYFAVVSRIKQESNQI1147
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

There are currently no reported variants at residue 1101 for ANK2.