Case Reports in Genetics / 2020 / Article / Fig 2

Case Series

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

Figure 2

Protein modeling. (a) Normal ATM protein, (b) ATM protein structure with Glu at 2466 in helix, (c) structure of the protein with a missing helix, (d) structure of the ATM protein synthesized after deletion of GAAA from normal ATM mRNA at 5347_5350,and (e) 3D structure unaltered.

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