Fig. 1.

A) The pedigree of the proband. b) Electropherogram of nucleotide change c.398A>G in the BRAT1 gene in the patient and his parents. c) Protein model of BRCA1-associated protein required for ATM activation-1 protein based on the AlphaFold structure prediction (ID MOU2). d) His133 in the wild type protein and its interactions based on the prediction of PremPS computational method. d) Arg133 in the mutated protein and its interactions based on the prediction of PremPS computational method. Navy blue dotted line: hydrophobic interaction, Arctic blue dotted line: polar interaction, green dotted line: Van der Waals interaction, yellow dotted line: ionic interaction, purple dotted line: aromatic interaction.