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.
|Residue||Domain||Known Variant Status||Consensus||Mapped Paralogues and Variant Disease|
|1-M||None||9||ANK1 - Spherocytosis|
|206-K||Ankyrin domain region||None||9||ANK3 - Lennox-Gastaut syndrome|
|304-H||Ankyrin domain region||None||9||ANK1 - Spherocytosis|
|490-V||Ankyrin domain region||None||9||ANK1 - Spherocytosis|
|624-A||Ankyrin domain region||None||7||ANK1 - Schizophrenia|
|1022-E||None||9||ANK1 - Spherocytosis|
|1101-L||None||9||ANK1 - Spherocytosis|
|1110-I||None||9||ANK1 - Spherocytosis|
|1395-L||None||9||ANK1 - Spherocytosis|
|1469-D||None||2||ANK3 - Autism spectrum disorder|
|1955-M||None||7||ANK3 - Autism|
|2546-K||None||4||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||None||3||ANK3 - Autism spectrum disorder|