Mutations in B29 Intracytoplasmic Domain
| Patient . | Allele . | Nucleotide Change . | Amino Acid Change . |
|---|---|---|---|
| 2A | 1 | None | |
| 2 | 3285 GAC → AAC | 202 Asp → Asn | |
| 5A | 1 | None | |
| 2 | 3348 GGT → AGT | 223 Gly → Ser | |
| 6A | 1 | None | |
| 2 | 3148 GAA → GAG | ||
| 14B | 1 | None | |
| 2 | 3151 GAT → GAC |
| Patient . | Allele . | Nucleotide Change . | Amino Acid Change . |
|---|---|---|---|
| 2A | 1 | None | |
| 2 | 3285 GAC → AAC | 202 Asp → Asn | |
| 5A | 1 | None | |
| 2 | 3348 GGT → AGT | 223 Gly → Ser | |
| 6A | 1 | None | |
| 2 | 3148 GAA → GAG | ||
| 14B | 1 | None | |
| 2 | 3151 GAT → GAC |
Only 4 patients of 20 had silent or replacement mutations. Numbering of the nucleotides begins with the first base of the complete DNA sequence described in Hashimoto et al.23