BTK mutations in XLA patients
| XLA patient . | Mutation (DNA) . | Amino acid change . |
|---|---|---|
| XLA 1 | c.1742G>C | p.TRP581SER |
| XLA 2 | c.494G>A | p.CYS165TYR |
| XLA 3 | c.494G>A | p.CYS165TYR |
| XLA 4 | c.463G>A | p.CYS155ARG |
| XLA 5 | c.82C>A | p.ARG28SER |
| XLA patient . | Mutation (DNA) . | Amino acid change . |
|---|---|---|
| XLA 1 | c.1742G>C | p.TRP581SER |
| XLA 2 | c.494G>A | p.CYS165TYR |
| XLA 3 | c.494G>A | p.CYS165TYR |
| XLA 4 | c.463G>A | p.CYS155ARG |
| XLA 5 | c.82C>A | p.ARG28SER |
Nucleotide 1 corresponds to the A of the ATG-translation initiation codon. XLA 1 has been previously described.28