Table 2.
Sequence Variations Found in PRKACA and PRKACB
| Gene | Location in gene | Variant type | SNP detail | Alternate amino acids | MAFa in controls |
|---|---|---|---|---|---|
| PRKACA (GI:46909581) | |||||
| 288A>G | Exon 2 | Nonsynonymous | AAGAAGATTT TCTTAAA [A/G] AA TGGGAAAGTCCCGCTC |
K30E | 0.000b |
| 749+76G>A | 76 bp downstream of exon 6 | Intronic | gtggccctgcagagcctacc [c/t] Cagaggaagacacctccagtc |
— | 0.354 |
| 654 G>C | Exon 6 | Nonsynonymous | TTCTACGCGGCCCAGATC [G/C] TCCTGACCTTTGAGTATCT |
V152L | 0.011 |
| 658 T>G | Exon 6 | Nonsynonymous | ACGCGGCCCAGATCGTCC [T/G] GACCTTTGAGTATCTGCA |
L153R | 0.022 |
| PRKACB (GI:46909585) | |||||
| 649-25G>C | 25 bp upstream of exon 6 | Intronic | gaatgtattaactcatttttaca [g/c] aaaatcaatggttttatttctttg |
— | 0.013 |
| 690G>A | Exon 6 | Synonymous | GTTCTATGCAGCTCAGATAGT [G/A] CTAACATTCGAGTACCTCCAT |
V199V | 0.013 |
| 700G>A | Exon 6 | Nonsynonymous | GATAGTGCTAACATTC [G/A] AGTACCTCCATTCACTAGACC |
E203K | 0.013 |
a
Minor allele frequency (MAF): number of minor alleles detected/number of individuals successfully sequenced × 2.
b
Minor allele found in spina bifida case.