Fig. 1
From: The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis
A Oncoprint visualization of all genetic variants identified by targeted NGS analysis in 44 erythrocytosis cases. SNP: single nucleotide polymorphism. B Maps of the mutations on linear proteins of the most mutated genes in all sequenced cases. Green dots stand for missense mutations, while black dots indicate frameshift mutations. The height of the bar depends on the number of cases bearing each variant. HARE-HTH: HB1, ASXL, restriction endonuclease HTH domain (12–83); ASXH: Asx homology domain (234–362); PHD: PHD domain of transcriptional enhancer, Asx (1480–1539); PWWP: Pro-Trp-Trp-Pro domain (291–374); DNA_methylase: C-5 cytosine-specific DNA methylase (634–767); Tet_JBP: Oxygenase domain of the 2OGFeDO superfamily (1290–1905). C Diagnostic approach to erythrocytosis patients. PV: polycythemia vera, BOM: bone marrow biopsy