Skip to main content
. Author manuscript; available in PMC: 2014 Aug 12.
Published in final edited form as: Acta Neuropathol. 2014 May 20;128(1):111–122. doi: 10.1007/s00401-014-1285-z

Fig. 5.

Fig. 5

Graphic representation of the DICER1 protein structure (NP_001258211.1) indicating the approximate positions of the germ-line (green diagonal stripes) and somatic (orange horizontal stripes) DICER1 mutations observed in the 13 cases being reported. Mutation shaded with blue vertical stripes represent mutations that were identified within tumour gDNA, but are not confirmed to be somatic in origin. Case number indicated at the position of each mutation: case 1: somatic DICER1 amino acid change: p.(Glu1813Lys). Case 2: germ-line DICER1 amino acid change: p.(Asn1093*). Case 3: germ-line DICER1 amino acid change: p.(Tyr793*), (NMD of mutant). Case 4: germ-line DICER1 amino acid change: p.(Ser1179Thrfs*12); Somatic DICER1 amino acid change: p.(Asp1709Thr). Case 5: germ-line DICER1 amino acid change: p.(Arg509*); somatic DICER1 amino acid change: p.(Gly1809Trp). Case 6: germ-line DICER1 amino acid change: p.(Asp1437Metfs*16); somatic DICER1 amino acid change: p.(Asp1709Asn). Case 9: germ-line DICER1 amino acid change: p.(Arg676*); somatic DICER1 amino acid change: p.(Glu1813Asp). Case 10: germ-line DICER1 amino acid change: p.(Arg676*); somatic DICER1 amino acid change: p.(Glu1813Val). Case 11: germ-line DICER1 amino acid change: p.(Lys429Alafs*47); somatic DICER1 amino acid change: p.(Glu1813Lys). Case 12: germ-line DICER1 amino acid change: p.(Asp1709His); somatic DICER1 change: loss of heterozygosity