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Fig. 3 | BMC Endocrine Disorders

Fig. 3

From: Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation

Fig. 3

Predicted impact of the c.674delG mutation on protein-menin interactions. A Ternary structure of menin complexed with the mixed lineage leukaemia protein 1 (MLL1, orange) and the chromatin binding factor lens epithelium-derived growth factor (LEDGF, blue) at 3.00 Å resolution from PDB 3U88 [8]. The protein backbone is given as a cartoon model (green, dark and light gray). The region of the menin protein potentially impacted by frameshift is colored dark gray and part of the menin protein not translated colored light gray. B Location of the novel mutation and interaction partners of menin with predicted LOI [8, 10, 12, 13]. CHES1, checkpoint suppressor 1; FANCD2, Fanconi anemia group D2 protein; HDAC1, histone deacetylase 1; LEDGF, lens epithelium-derived growth factor; LOI, loss of interaction; MLL1, mixed lineage leukaemia protein 1; RPA2, replication protein A2

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