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Distribution of ATM amino acid substitutions in ATM-KD patients. Schematic representation of the ATM protein 189 indicating the location of kinase dead mutations that are spread across the whole protein. The TAN (Tel1/ATM N-termi-190 nal), NLS (Nuclear Localization Signal), FAT (FRAP-ATM-TRRAP), Kinase, and FATC (FRAP-TM-TRRAP-C-terminal) domains are indicated.
