Somatic Mutations of PIG-A Found in Patient J19
| Mutation . | Nucleotides . | Nucleotide Change . | Codon . | Consequence . | Frequency of Mutations . | |
|---|---|---|---|---|---|---|
| . | . | . | . | . | Hematopoietic Progenitor Colonies/Bursts . | Granulocyte DNA Clones . |
| Mutation 1 (TK-14−) | 987 T | 1 bp Insertion | 329 | Frame shift | 13/25 | 14/27 |
| Mutation 2 (TK-1−) | 338 T to C | Transition | 113 | Missense (Leu to Pro) | 2/25 | ND |
| Mutation 3 | 1003 G to T | Transversion | 335 | Nonsense | 4/25 | 2/27 |
| Mutation 4 | 1028 AA | 2 bp Deletion | 343 | Frame shift | 2/25 | 0/27 |
| Mutation . | Nucleotides . | Nucleotide Change . | Codon . | Consequence . | Frequency of Mutations . | |
|---|---|---|---|---|---|---|
| . | . | . | . | . | Hematopoietic Progenitor Colonies/Bursts . | Granulocyte DNA Clones . |
| Mutation 1 (TK-14−) | 987 T | 1 bp Insertion | 329 | Frame shift | 13/25 | 14/27 |
| Mutation 2 (TK-1−) | 338 T to C | Transition | 113 | Missense (Leu to Pro) | 2/25 | ND |
| Mutation 3 | 1003 G to T | Transversion | 335 | Nonsense | 4/25 | 2/27 |
| Mutation 4 | 1028 AA | 2 bp Deletion | 343 | Frame shift | 2/25 | 0/27 |
Abbreviation: ND, not done.