Table 3.
Nucleotide change | Amino acid change | No. of mutated cases |
---|---|---|
BRAF codon 600–601 | ||
c.1799T>A | p.V600E | 13/58 (22%) |
c.1799_1801delTGA | p.V600_K601>Ea | 1/58 (2%) |
NRAS codon 12–13 | ||
none | ||
NRAS codon 61 | ||
c.181C>A | p.Q61K | 3/54 (6%) |
c.182A>G | p.Q61R | 9/54 (17%) |
HRAS codon 12–13 | ||
none | ||
HRAS codon 61 | ||
c.182A>G | p.Q61R | 3/54 (6%) |
KRAS codon 12–13 | ||
none | ||
KRAS codon 61 | ||
c.182A>G | p.G61R | 2/54 (4%) |
c.180_181TC>AA | p.G61K | 1/54 (2%) |
This rare deletion mutation in the BRAF gene (c.1799_1801delTGA) converts codons 600 GTG (valine) and 601 AAA (lysine) to a new single codon GAA (glutamic acid) (p.V600_K601>E) while preserving the reading frame of the coding region of the gene.