LAPTM5^c403t/P135S germ line variant characterizes familial WM cases. (A) Distribution of the variant among familial (n = 50) and nonfamilial (n = 196) cases. (B) Genomic structure: location of the LAPTM5 locus is shown by a red line; the centromere is indicated by red triangles. Gene structure is also shown (National Center for Biotechnology Information Reference [RefSeq] number, NM_006762), with the blue box indicating exons. The variant is localized in exon 5. (C) Secondary structures for LAPTM5 were predicted by Interpro (http://www.ebi.ac.uk/interpro). Mutation positions and amino acid changes are indicated in red. Three-dimensional reconstruction of the protein, as predicted by Phyre2: NH2-terminal and carboxyl-terminal domains are indicated in blue and red, respectively; P135S is indicated by a red arrow.