File:ClinGen RUNX1 germline mutation landscape.jpg
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Summary
Schematic of RUNX1 exonic distribution, protein isoforms, and functional domain structure with all 52 pilot variants and their final MM-VCEP classification. (A) Isoform C with RHD, transactivation domain (TAD), and the VWRPY motif and location of all 49 single-nucleotide pilot variants with their final MM-VCEP classification. PATH and LPATH variants are shown at the top, and VUS, LBEN, and BEN variants are shown at the bottom. The exonic distribution of isoform C is displayed below. (B) Schematic of RUNX1 isoforms A, B, and C and their functional domains. Regions in gray are unique to 1 isoform. The 3 pilot CNVs are shown at the bottom, with the deletion of exons 2 and 3 exclusively affecting the N-terminal 33 AA of isoform C. (PATH – pathogenic, LPATH – likely pathogenic, VUS – variants of unclear significance, LBEN – likely benign, and BEN – benign)
Luo X et al. (2019) doi: 10.1182/bloodadvances.2019000644[1]
- ↑ X, Luo; et al. (2019). "ClinGen Myeloid Malignancy Variant Curation Expert Panel Recommendations for Germline RUNX1 Variants". doi:10.1182/bloodadvances.2019000644. PMC 6849945. PMID 31648317.CS1 maint: PMC format (link)
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| Date/Time | Thumbnail | Dimensions | User | Comment | |
|---|---|---|---|---|---|
| current | 14:42, 1 June 2020 | | 771 × 801 (150 KB) | Malini.Sathanoori (talk | contribs) | Schematic of RUNX1 exonic distribution, protein isoforms, and functional domain structure with all 52 pilot variants and their final MM-VCEP classification. (A) Isoform C with RHD, transactivation domain (TAD), and the VWRPY motif and location of all 4... |
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