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. Author manuscript; available in PMC: 2016 Feb 1.

Published in final edited form as: Nat Genet. 2015 Dec 21;48(2):183–188. doi: 10.1038/ng.3473

Identification of frequent RRAGC mutations in FL. (a) RRAGC mutations show two different patterns of conservation in successive tumor biopsies during FL progression in the discovery WES cases: mutation stability and convergent evolution. (b) Variant allele frequency (VAF) distribution and density for all the non-synonymous mutations identified in the 5 WES cases. In each case, the first available biopsy is depicted, with the exception of B3 where two time points are illustrated (B3_FL1 and B3_FL8). (c) Schema of the protein domain and locations of the RRAGC mutations identified in this study (NCBI protein reference sequence: NP_071440.1). Thirty-seven mutations affecting 32 cases. ‘^’ denotes a second RRAGC mutation occurring in a different disease event from the same patient. ‘*’ represents a second RRAGC mutation within the same biopsy of a particular patient. Multiple circles for the same amino acid represent multiple cases with mutations affecting the same residue. (d) Sequence alignment of a section of the RRAGC nucleotide binding domain. Conserved residues across all the listed species is indicated by an asterisk (*). The location of the GTP/GDP binding sites are indicated by the red horizontal bar (locations: aa 68–75; and aa 116–120) whilst the recurrent hotspot residues are highlighted by the light blue vertical panel.

Identification of frequent RRAGC mutations in FL. (a) RRAGC mutations show two different patterns of conservation in successive tumor biopsies during FL progression in the discovery WES cases: mutation stability and convergent evolution. (b) Variant allele frequency (VAF) distribution and density for all the non-synonymous mutations identified in the 5 WES cases. In each case, the first available biopsy is depicted, with the exception of B3 where two time points are illustrated (B3_FL1 and B3_FL8). (c) Schema of the protein domain and locations of the RRAGC mutations identified in this study (NCBI protein reference sequence: NP_071440.1). Thirty-seven mutations affecting 32 cases. ‘^’ denotes a second RRAGC mutation occurring in a different disease event from the same patient. ‘*’ represents a second RRAGC mutation within the same biopsy of a particular patient. Multiple circles for the same amino acid represent multiple cases with mutations affecting the same residue. (d) Sequence alignment of a section of the RRAGC nucleotide binding domain. Conserved residues across all the listed species is indicated by an asterisk (*). The location of the GTP/GDP binding sites are indicated by the red horizontal bar (locations: aa 68–75; and aa 116–120) whilst the recurrent hotspot residues are highlighted by the light blue vertical panel.