Table 2.
GATA1 mutations identified in patients with congenital red blood cell disorders
| Pathogenic mutations | Annotation of mutation | Red blood cell disorders | Reference | |
|---|---|---|---|---|
| Genomic change | Predicted protein change | |||
| c.613G>A | p.Val205Met (V205M) | Mutation in N-ZF of GATA1, strongly reduced FOG1 binding | Dyserythropoietic anemia | 47 |
| c.622G>C | p.Gly208Arg (G208R) | Mutation in N-ZF of GATA1 | Dyserythropoietic anemia | 114,115 |
| c.647G>A | p.Arg216Gln (R216Q) | Mutation in N-ZF of GATA1 | β-Thalassemia, dyserythropoietic anemia | 79,116–118 |
| c.646C>T | p.Arg216Trp (R216W) | Mutation in N-ZF of GATA1 | β-Thalassemia, microcytic anemia, congenital erythropoietic porphyria | 119 |
| c.653A>G | p.Asp218Gly (D218G) | Mutation in N-ZF of GATA1, reduced FOG1 binding | Dysmorphic red blood cells | 120 |
| c.652G>T | p.Asp218Tyr (D218Y) | Mutation in N-ZF of GATA1, strongly reduced FOG1 binding | Dyserythropoietic anemia | 121 |
| c.652G>A | p.Asp218Asn (D218N) | Mutation in N-ZF of GATA1 | Dyserythropoiesis | 122 |
| g.7230C>T | Five–amino acid insertion at the C-terminus of the C-ZF | Dyserythropoietic anemia | 84 | |
| c.220G>C | Splicing defect; Loss of GATA1, increased GATA1s | Macrocytic anemia | 83 | |
| c.220G>C | Splicing defect; Loss of GATA1, favoring GATA1s production | Diamond–Blackfan Anemia | 98,101 | |
| c.220delG | Splicing defect; Loss of GATA1, favoring GATA1s production | Diamond–Blackfan Anemia | 98 | |
| c.-21A>G | Splicing defect; Loss of GATA1, GATA1s only | Dyserythropoietic Anemia | 123 | |
| c.2T>C | Translation defect; favoring GATA1s production | Diamond–Blackfan Anemia | 99,100 | |