Mutations in ITGB2 from 3 patients with LAD-1
| Patient . | Original mutation, nucleotide: amino acid . | Reversion, nucleotide: amino acid . |
|---|---|---|
| 1 | A→C nt 392: Y131S | C→T nt 392:S131F |
| 2 | G→A nt 850: G284S | A→C nt 850: S284R and C→A nt 852A;852A;S284R |
| 3 | A→G nt 1052;N351S and C→A nt 741-14:247 + PSSQ | No reversion at nt 1052 and A→C nt 741-14 (WT) |
| Patient . | Original mutation, nucleotide: amino acid . | Reversion, nucleotide: amino acid . |
|---|---|---|
| 1 | A→C nt 392: Y131S | C→T nt 392:S131F |
| 2 | G→A nt 850: G284S | A→C nt 850: S284R and C→A nt 852A;852A;S284R |
| 3 | A→G nt 1052;N351S and C→A nt 741-14:247 + PSSQ | No reversion at nt 1052 and A→C nt 741-14 (WT) |
The 4 mutations in these 3 patients all affect the highly conserved I/A domain of the protein. The numbering of the mutated residues is calculated from the beginning of the signal sequence.