Mutations in B29 Ig and Transmembrane Domains
| Patient . | Allele . | Nucleotide Change . | Amino Acid Change . | B29 Domain Affected . |
|---|---|---|---|---|
| 1A | 1 | 2254 AAA → AGA | 56 Lys → Arg | Ig |
| 2377 GAA → GAG | ||||
| 2453 TGT → TGC | ||||
| 2 | None | |||
| 1B | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 2A | 1 | 2453 TGT → TGC | ||
| 2 | 2269 GTG → GCG | 61 Val → Ala | Ig | |
| 2453 TGT → TGC | ||||
| 2B | 1 | 2453 TGT → TGC | ||
| 2 | 2392 GAA → GGA | 102 Glu → Gly | Ig | |
| 3A | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 3B | 1 | 2383 TCC → TTC | 99 Ser → Phe | Ig |
| 2 | None | |||
| 4A | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 2711 TTC → TTT | ||||
| 4B | 1 | 2453 TGT → TGC | ||
| 2 | 2283 TAC → CAC | 66 Tyr → His | Ig | |
| 2710 TTC → TCC | 145 Phe → Ser | TM | ||
| 5A | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 5B | 1 | 2453 TGT → TGC | ||
| 2780 ATC → CTC | 169 Ile → Leu | TM | ||
| 2 | 2301 GGC → AGC | 72 Gly → Ser | Ig | |
| 6A | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 6B | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 7A | 1 | 2453 TGT → TGC | ||
| 2 | ||||
| 7B | 1 | 2453 TGT → TGC | ||
| 2781 ATC → ACC | 169 Ile → Thr | TM | ||
| 2 | 2453 TGT → TGC | |||
| 8A | 1 | 2453 TGT → TGC | ||
| 2 | ||||
| 8B | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 13A | 1 | 2453 TGT → TGC | ||
| 2 | 2453 TGT → TGC | |||
| 2253 AAA → GAA | 56 Lys → Glu | Ig | ||
| 13B | 1 | None | ||
| 2453 TGT → TGC | ||||
| 14A | 1 | 2453 TGT → TGC | ||
| 2 | 2453 TGT → TGC | |||
| 2775 CTG → CCG | 167 Leu → Pro | TM | ||
| 14B | 1 | None | ||
| 2 | 2453 TGT → TGC |
| Patient . | Allele . | Nucleotide Change . | Amino Acid Change . | B29 Domain Affected . |
|---|---|---|---|---|
| 1A | 1 | 2254 AAA → AGA | 56 Lys → Arg | Ig |
| 2377 GAA → GAG | ||||
| 2453 TGT → TGC | ||||
| 2 | None | |||
| 1B | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 2A | 1 | 2453 TGT → TGC | ||
| 2 | 2269 GTG → GCG | 61 Val → Ala | Ig | |
| 2453 TGT → TGC | ||||
| 2B | 1 | 2453 TGT → TGC | ||
| 2 | 2392 GAA → GGA | 102 Glu → Gly | Ig | |
| 3A | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 3B | 1 | 2383 TCC → TTC | 99 Ser → Phe | Ig |
| 2 | None | |||
| 4A | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 2711 TTC → TTT | ||||
| 4B | 1 | 2453 TGT → TGC | ||
| 2 | 2283 TAC → CAC | 66 Tyr → His | Ig | |
| 2710 TTC → TCC | 145 Phe → Ser | TM | ||
| 5A | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 5B | 1 | 2453 TGT → TGC | ||
| 2780 ATC → CTC | 169 Ile → Leu | TM | ||
| 2 | 2301 GGC → AGC | 72 Gly → Ser | Ig | |
| 6A | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 6B | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 7A | 1 | 2453 TGT → TGC | ||
| 2 | ||||
| 7B | 1 | 2453 TGT → TGC | ||
| 2781 ATC → ACC | 169 Ile → Thr | TM | ||
| 2 | 2453 TGT → TGC | |||
| 8A | 1 | 2453 TGT → TGC | ||
| 2 | ||||
| 8B | 1 | None | ||
| 2 | 2453 TGT → TGC | |||
| 13A | 1 | 2453 TGT → TGC | ||
| 2 | 2453 TGT → TGC | |||
| 2253 AAA → GAA | 56 Lys → Glu | Ig | ||
| 13B | 1 | None | ||
| 2453 TGT → TGC | ||||
| 14A | 1 | 2453 TGT → TGC | ||
| 2 | 2453 TGT → TGC | |||
| 2775 CTG → CCG | 167 Leu → Pro | TM | ||
| 14B | 1 | None | ||
| 2 | 2453 TGT → TGC |
Two kinds of B29 DNA clones were detected in B-CLL cell samples, corresponding to 2 alleles (1 and 2). Numbering of the nucleotides begins with the first base of the complete DNA sequence described in Hashimoto et al.23
Abbreviations: Ig, Ig domain; TM, transmembrane domain.