Skip to main content
. 2022 Nov 14;31(1):112–121. doi: 10.1038/s41431-022-01217-4

Fig. 1. Genetic characterization of PURA syndrome in our cohort.

Fig. 1

A Distribution of PURA mutations in our patients. Recurrent mutations are indicated in red color. Protein domains are from UniProt. B Three-dimensional Structural model of PURA with missense variants. The representation of the structure of human PURA (GenBank: NP_005850.1) was predicted by alphafold. PUR-I domain, PUR-II domain and PUR-III domain is respectively shown in green, yellow and cyan. β sheets are illustrated as flat directional arrows.