Single nucleotide substitutions at GATA1/exon 2 in DS AMkL and TMD patients: Characterization of single-nucleotide substitutions
| Nucleotide change . | Amino acid change . | Type . | Potential source . | |
|---|---|---|---|---|
| Oxidative stress . | Uracil . | |||
| 5 A>G | glu2gly | ms | Yes | |
| 49 C>T | gln17ter | ns | Yes | |
| 115 G>T | glu39ter | ns | Yes | |
| 160 A>G | thr54ala | ms | Yes | |
| 163 G>T | ala55ser | ms | Yes | |
| 221 G>A | gly74asp | spl | Yes | |
| Nucleotide change . | Amino acid change . | Type . | Potential source . | |
|---|---|---|---|---|
| Oxidative stress . | Uracil . | |||
| 5 A>G | glu2gly | ms | Yes | |
| 49 C>T | gln17ter | ns | Yes | |
| 115 G>T | glu39ter | ns | Yes | |
| 160 A>G | thr54ala | ms | Yes | |
| 163 G>T | ala55ser | ms | Yes | |
| 221 G>A | gly74asp | spl | Yes | |
ms indicates missense mutation; ns, nonsense mutation; and spl, splice variant.