ANK2 Paralogue Annotation

This page details the annotation of ANK2 with disease causing variants in the following paralogues: ANK1, ANK3. Click here to see the multiple sequence alignment of ANK2 with all paralogues.

The paralogue variant mappings to ANK2 are based on the Locus Reference Genomic entry for ANK2 - LRG_327. This is based on the transcript ENST00000264366 and protein ENSP00000264366 (3924 amino acids) for the Ensembl gene ENSG00000145362.

Amino acid residues of ANK2 with mapped disease-causing missense variants from paralogues are shown below, along with details about the ANK2 protein domain and known missense variant status for these residues (the number of published reports for the residue is in parentheses), the consensus from the M-Coffee multiple sequence alignment at this mapping and the disease(s) associated with the paralogue variant(s). Click on the residue to see further details about the known ANK2 variants and the mapped paralogue variants.

ResidueDomainKnown Variant Status ConsensusMapped Paralogues and Variant Disease
1-M None9 ANK1 - Spherocytosis
206-K Ankyrin domain region None9 ANK3 - Lennox-Gastaut syndrome
304-H Ankyrin domain region None9 ANK1 - Spherocytosis
490-V Ankyrin domain region None9 ANK1 - Spherocytosis
624-A Ankyrin domain region None7 ANK1 - Schizophrenia
1022-E None9 ANK1 - Spherocytosis
1101-L None9 ANK1 - Spherocytosis
1110-I None9 ANK1 - Spherocytosis
1395-L None9 ANK1 - Spherocytosis
1469-D None2 ANK3 - Autism spectrum disorder
1955-M None7 ANK3 - Autism
2546-K None4 ANK3 - Intellectual disability, cerebral & cerebellar atr
3104-E Prob. Benign (0)4 ANK3 - Autism spectrum disorder
3693-D Prob. Benign (0)6 ANK1 - Spherocytosis
3754-A None3 ANK3 - Autism spectrum disorder