Description of the mutations of GATA1 (NM_002049) Mutants
Keys for Mutation Description
A.A. substitution
Truncation
NT deletion
NT insertion
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
| SKU | Mutation Description | Affected Codon# | Affected NT# | Description | Effect |
| RC402610 | V205M | 205 | 613 | G>A | Dyseryhropoiei nemi nd hromboyopeni |
| RC402611 | G208R | 208 | 622 | G>A | Dyseryhropoiei nemi nd hromboyopeni |
| RC402612 | R216Q | 216 | 647 | G>A | Thromboyopeni 1 |
| RC402613 | R216W | 216 | 646 | C>T | Porphyri, onenil eryhropoiei |
| RC402614 | D218G | 218 | 653 | A>G | Thromboyopeni 1 |
| RC402615 | D218Y | 218 | 652 | G>T | Thromboyopeni 1 |
