Page 36 - Haematologica April 2020

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Figure 2. Overview of RUNX1 protein domains, ClinVar- deposited and MM-VCEP curated pilot and COSMIC vari- ants. (A) Schematic of the RUNX1 protein showing its key domains, including the Runt homology domain (RHD); annotation according to MM-VCEP is based on RUNX1 transcript isoform C (NM_001754). (B) Schematic of ClinVar-deposited RUNX1 variants in a one- dimensional line plot showing the current ClinVar five-tier classification; data plotted using proteinpaint from St. Jude.org with data from ClinVar (accessed 6/2019); RHD (purple), and ID (green) are highlighted; numbers indi- cate amino acid; dotted lines indicate exon boundaries. Some ClinVar-deposited variants (in 5’ and 3’ untranslat- ed regions and large deletions) are not shown. Lollipops representing the variants are colored as follows: PATH (red), LPATH (orange), VUS (grey), LBEN (blue), BEN (pur- ple), CONF (green). MM-VCEP pilot variants18 are shown in the third row. (continued on next page)
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