Figure 4.

GATA1 variant spectrum in germline and somatic setting. The green boxes indicate the two GATA zinc finger protein domains, the amino-terminal finger (Nf) and carboxy-terminal finger (Cf). (A) GATA1 variants listed in ClinVar as Pathogenic or Likely Pathogenic or in HGMD as “disease-associated” for hereditary conditions. (B) GATA1 sequence variants listed in COSMIC identified in hematopoietic or lymphoid tissues. Intronic variants that may affect splicing are not included. Numbering based on RefSeq transcript NM_002049.3.