TABLE 2.

New mutations characterized in palIa

AlleleTruncating mutationsMissense mutations
DNA changeProteinDNA changeSubstitution
palI320 ΔC64-T71L22fs
palI304 T67A + ΔC69-C70S23fs
palI315 ΔC83-G93P28fs
palI309 DT84-T90P28fs
palI303 85 insAI29fs
palI312 A91TK31stop
palI321 T96C + ΔA97S32fs
palI317 T137C + G139T + ΔG140G47fs(F46S)
palI314 ΔT274F76fs
palI310 ΔT342-C343F98fs
palI300 ΔA414L122fs
palI311 T413GL122stop
palI308 ΔT470-T477L141fs
palI313 ΔT498H150fs
palI316 G516insAI157fs
palI307 T74AI25K
palI322 C77TS26L
palI306 G130AG44R
palI319 A326CH93P
  • 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.