Table 3. Mutations in the PRKACA gene discovered by sequencing of 498 Norwegian subjects.
| Exon no. | Nucleotide (nt) no. | Amino acid (aa) | WT/mut nt | WT/mut aa | No. affected individuals | Functional consequence prediction |
| 2 | 102 | Pro33 | C/T | Silent | 10 | Likely neutral |
| 3 | 137 | Arg45 | G/A | Arg/Gln | 1 | Arg45 is highly conserved in metazoan Cα/Cβ homologs – likely functional consequences |
| 4 | 328 | Ser109 | T/C | Ser/Pro | 2 | Ser109 in conserved in Cα, but not in Cβ – effect unknown |
| 5 | 381 | Gly126 | G/A | Silent | 3 | Likely neutral |
| 8 | 711 | Pro236 | G/A | Silent | 1 | Likely neutral |
Nucleotide enumeration is counted from the PKA Cα1 transcript start codon. Amino acid numbering is given for the mature protein with N-terminal Gly1 corresponding to codon 2. Sequence conservation is illustrated in Supplementary Fig. S1.