Mutations of the PIG-A gene in 3 PNH patients
| No. . | . | Abnormality of protein . | Frequency of mutations3-151 . | |||||
|---|---|---|---|---|---|---|---|---|
| Mutation of PIG-A gene . | BM CD34+ cells . | PB granulocytes . | ||||||
| Position3-150 . | Type . | CD59− . | CD59+ . | CD59− . | CD59+/− . | CD59+ . | ||
| 1-1 | 5′ splicing site | Deletion, GT > G | Exon 5 deletion (415)3-152 | 20:21 | 0:20 | 20:20 | 0:20 | 0:20 |
| 1-2 | 214 | Substitution, CAT > TAT | Missense (His→Tyr)3-152 | 2:38 | 0:20 | 0:20 | 20:20 | 0:20 |
| 2-1 | 548 | Substitution, TGT > TAT | Missense (Cys→Tyr)3-152 | 18:20 | 0:20 | 20:20 | — | 0:20 |
| 2-23-153 | 982 | Substitution, GTT > TTT | Missense (Val→Phe)3-152 | 0:20 | 0:20 | 0:20 | — | 0:20 |
| 2-33-153 | 1392 | Deletion, TGG > TG | Frameshift | 0:20 | 0:20 | 0:20 | — | 0:20 |
| 3-1 | 108 | Substitution, TGC > TGA | Nonsense (Cys→Stop)3-152 | 5:22 | 0:20 | 6:20 | — | 0:20 |
| 3-2 | 491 | Substitution, TCG > TTG | Missense (Ser→Leu)3-152 | 0:20 | 0:20 | 9:20 | — | 0:20 |
| 3-33-153 | 844 | Substitution, GAC > AAC | Missense (Asp→Asn)3-152 | 0:20 | 0:20 | 0:20 | — | 0:20 |
| 3-43-153 | 5′ splicing site | Deletion, GT > G | Exon 5 deletion (415)3-152 | 0:20 | 0:20 | 0:20 | — | 0:20 |
| No. . | . | Abnormality of protein . | Frequency of mutations3-151 . | |||||
|---|---|---|---|---|---|---|---|---|
| Mutation of PIG-A gene . | BM CD34+ cells . | PB granulocytes . | ||||||
| Position3-150 . | Type . | CD59− . | CD59+ . | CD59− . | CD59+/− . | CD59+ . | ||
| 1-1 | 5′ splicing site | Deletion, GT > G | Exon 5 deletion (415)3-152 | 20:21 | 0:20 | 20:20 | 0:20 | 0:20 |
| 1-2 | 214 | Substitution, CAT > TAT | Missense (His→Tyr)3-152 | 2:38 | 0:20 | 0:20 | 20:20 | 0:20 |
| 2-1 | 548 | Substitution, TGT > TAT | Missense (Cys→Tyr)3-152 | 18:20 | 0:20 | 20:20 | — | 0:20 |
| 2-23-153 | 982 | Substitution, GTT > TTT | Missense (Val→Phe)3-152 | 0:20 | 0:20 | 0:20 | — | 0:20 |
| 2-33-153 | 1392 | Deletion, TGG > TG | Frameshift | 0:20 | 0:20 | 0:20 | — | 0:20 |
| 3-1 | 108 | Substitution, TGC > TGA | Nonsense (Cys→Stop)3-152 | 5:22 | 0:20 | 6:20 | — | 0:20 |
| 3-2 | 491 | Substitution, TCG > TTG | Missense (Ser→Leu)3-152 | 0:20 | 0:20 | 9:20 | — | 0:20 |
| 3-33-153 | 844 | Substitution, GAC > AAC | Missense (Asp→Asn)3-152 | 0:20 | 0:20 | 0:20 | — | 0:20 |
| 3-43-153 | 5′ splicing site | Deletion, GT > G | Exon 5 deletion (415)3-152 | 0:20 | 0:20 | 0:20 | — | 0:20 |
BM indicates bone marrow; PB, peripheral blood; His, histidine; Tyr, tyrosine; Cys, cysteine; Val, Valine; Phe, phenylalanine; Ser, serine; Leu, leucine; Asp, aspartic acid; Asn, asparagines; and Stop, stop codon.
The nucleotides are numbered from the first nucleotide of the coding region of the PIG-A gene.
The numbers indicate the ratio of mutated clones to the total examined in each cell population.
The size of the resultant protein (amino acid residues) is indicated in parenthesis. The amino acids without and with the mutation are also indicated in parentheses when the abnormality of the PIG-A gene was a missense or nonsense mutation.
Mutations 2-2, 2-3, 3-3, and 3-4 were found only in semisolid cultures of CD34+ cells.