PIG-A mutations in PNH+ RA patients
| Patient . | Age, y/sex . | Exon . | Mutations . | Position . | Consequence . |
|---|---|---|---|---|---|
| 1 | 40/M | 4 | 1-bp deletion (T) | 998 | Frameshift, stop codon in 1002 |
| 2 | 48/M | 5 | 1-bp insertion (T) | 1219 | Frameshift, stop codon in 1244 |
| 4 | Point mutation (A to T) | 962 | Stop codon in 962 | ||
| 4 | 1-bp deletion (T) | 952 | Frameshift, stop codon in 953 | ||
| 3 | 68/F | 5 | 1-bp insertion (T) | 1219 | Frameshift, stop codon in 1244 |
| 4 | 39/F | 4 | 1-bp deletion (C) | 961 | Frameshift, stop codon in 981 |
| 5 | 40/F | 5 | 1-bp deletion (G) | 1393 | Frameshift, stop codon in 1392 |
| Patient . | Age, y/sex . | Exon . | Mutations . | Position . | Consequence . |
|---|---|---|---|---|---|
| 1 | 40/M | 4 | 1-bp deletion (T) | 998 | Frameshift, stop codon in 1002 |
| 2 | 48/M | 5 | 1-bp insertion (T) | 1219 | Frameshift, stop codon in 1244 |
| 4 | Point mutation (A to T) | 962 | Stop codon in 962 | ||
| 4 | 1-bp deletion (T) | 952 | Frameshift, stop codon in 953 | ||
| 3 | 68/F | 5 | 1-bp insertion (T) | 1219 | Frameshift, stop codon in 1244 |
| 4 | 39/F | 4 | 1-bp deletion (C) | 961 | Frameshift, stop codon in 981 |
| 5 | 40/F | 5 | 1-bp deletion (G) | 1393 | Frameshift, stop codon in 1392 |