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. Author manuscript; available in PMC: 2012 Nov 2.
Published in final edited form as: J Med Genet. 2008 Sep;45(9):603–606. doi: 10.1136/jmg.2008.059568

Figure 1. Identification of a novel germline TP53-E285V mutation.

Figure 1

Sequence analysis of genomic DNA identified a heterozygous missense mutation in the DNA binding domain at codon 285 (H2 α helix), resulting in a glutamic acid to valine substitution (E285V). The adrenal (ACC) and brain (CPC) tumors retained both the wild-type and mutant TP53 alleles.