TABLE 2.
New mutations characterized in palIa
| Allele | Truncating mutations
|
Missense mutations
|
||
|---|---|---|---|---|
| DNA change | Protein | DNA change | Substitution | |
| palI320 | ΔC64-T71 | L22fs | ||
| palI304 | T67A + ΔC69-C70 | S23fs | ||
| palI315 | ΔC83-G93 | P28fs | ||
| palI309 | DT84-T90 | P28fs | ||
| palI303 | 85 insA | I29fs | ||
| palI312 | A91T | K31stop | ||
| palI321 | T96C + ΔA97 | S32fs | ||
| palI317 | T137C + G139T + ΔG140 | G47fs(F46S) | ||
| palI314 | ΔT274 | F76fs | ||
| palI310 | ΔT342-C343 | F98fs | ||
| palI300 | ΔA414 | L122fs | ||
| palI311 | T413G | L122stop | ||
| palI308 | ΔT470-T477 | L141fs | ||
| palI313 | ΔT498 | H150fs | ||
| palI316 | G516insA | I157fs | ||
| palI307 | T74A | I25K | ||
| palI322 | C77T | S26L | ||
| palI306 | G130A | G44R | ||
| palI319 | A326C | H93P | ||
a
Nucleotide numbering starts from the A in the initiation codon of the genomic palI sequence (GenBank entry AJ007629). The abbreviation fs indicates a frameshift, while stop denotes a nonsense codon. In contrast to the null phenotype of the palI30 (G47D) mutation, all four missense mutations listed here retain some residual activity.