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. Author manuscript; available in PMC: 2021 Aug 30.
Published in final edited form as: Nat Rev Cancer. 2020 Dec 16;21(2):122–137. doi: 10.1038/s41568-020-00315-z

Figure 2. Genetics of cancer predisposition genes in pediatric myeloid disorders malignancies.

Figure 2.

Schematics and domain architectures of proteins encoded by genes that have germline and somatic mutations in pediatric myeloid disorders, including GATA2 (a), SAMD9 (b), and SAMD9L (c) are shown. Refseq identifiers for transcripts used to generate the protein schematics are shown under the gene symbols. Listed germline mutations in GATA2 were collected from ref 46 and from available Pathogenic and Likely Pathogenic variants from ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/). SAMD9 and SAMD9L variants were taken from refs. 15,17–19,46,70–73. ZnF, zinc finger; NTPase, nucleoside triphosphatase; SAM, sterile alpha motif; AlbA, acetylation lowers binding affinity; SIR-2, silent information regulator 2; APAF-1, apoptotic protease-activating factor, TPR tetratricopeptide repeat; OB Fold, oligonucleotide/oligosaccharide-binding fold. SAMD9 and SAMD9L domain structure obtained from ref. 80.