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Schematic diagram of the MERIT40 protein and effect of the observed nucleotide changes in the coding region of the gene. Boxes represent exons. The only currently known functional domain, the von Willebrand factor A domain (aa 95–152) is dotted. Deletion of the last 30 amino acids of MERIT40 prevents its nuclear accumulation and association with BRCA1, RAP80, Abraxas and BRCC36 (region shown in gray)
