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. 2012 Nov 8;8(11):e1002945. doi: 10.1371/journal.pgen.1002945

Figure 4. Patients 27-4BI and 19-8BI have reduced ATR and ATRIP expression and mutations in ATR.

Figure 4

A) Photographs of patient included with informed consent of parent. B) Cell extracts (50 µg) from LBLs derived from WT (IM257), patient 27-4BI or patient 19-8BI were immunoblotted using the indicated antibodies. Reduced expression of ATR was observed in both patients. 27-4BI also had reduced ATRIP expression. C) Structure of ATR showing the site of the mutations identified and the UME domain. D) The UME domain is conserved between species and the methionine residue within this domain is conserved in yeast.