Table 1.
Mutationsin IDH1, IDH2, and TP53 genes that were detected in 106 brain tumour patients.
| Gene | Exon | Nucleotide change (amino acid change) | Number of patients with mutations (which are homozygous) | % mutations among all mutations in the gene | |
|---|---|---|---|---|---|
| IDH1 | Exon 4 | c.395G>A | (R132H) | 13 (1) | 100 (7.7) |
| IDH2 | Exon 4 | c.386A>G | (K129R) | 1 (1) | 100 |
|
| |||||
| TP53 | Exon 5 | c.427G>A | (V143M) | 1 | 2.4 |
| c.455C>T | (P152L) | 1 | 2.4 | ||
| c.473G>A | (R158H) | 1 (1) | 2.4 (2.4) | ||
| c.495G>C | (Q165H) | 1 | 2.4 | ||
| c.523C>A | (R175S) | 1 | 2.4 | ||
| c.524G>A | (R175H) | 3 | 7.3 | ||
| c.535C>A | (H179N) | 1 | 2.4 | ||
| Exon 6 | c.584T>C | (I195T) | 1 | 2.4 | |
| c.632C>T | (T211I) | 1 | 2.4 | ||
| c.643A>G | (S215G) | 1 | 2.4 | ||
| c.659A>G | (Y220C) | 1 | 2.4 | ||
| Exon 7 | c.725G>A | (C242Y) | 1 | 2.4 | |
| c.733G>A | (G245S) | 1 | 2.4 | ||
| c.742C>T | (R248W) | 2 | 4.9 | ||
| c.773A>T | (E258V) | 5 | 12.2 | ||
| c.775G>C | (D259H) | 1 | 2.4 | ||
| del 716_21 | (NA) | 1 | 2.4 | ||
| del 759_61 | (NA) | 1 | 2.4 | ||
| Exon 8 | c.799C>T | (R267W) | 1 | 2.4 | |
| c.806G>T | (S269I) | 1 | 2.4 | ||
| c.817C>T | (R273C) | 5 (3) | 12.2 (7.3) | ||
| c.821T>C | (V274A) | 1 | 2.4 | ||
| c.841G>C | (D281H) | 3 | 7.3 | ||
| c.844C>T | (R282W) | 1 | 2.4 | ||
| c.847C>T | (R283C) | 1 | 2.4 | ||
| c.850A>T | (T284S) | 1 | 2.4 | ||
| c.853G>A | (E285K) | 1 | 2.4 | ||
| c.857A>T | (E286V) | 1 | 2.4 | ||