The mutation is a G → A substitution at c. 1473 + 1, which destroys a splice donor recognition site in intron 10 and causes exon skipping that results in a frameshift and the introduction of a premature
termination codon [129].
Conversely, an earlier age at breast cancer diagnosis was associated with nonpremature
termination codon mutations and the founder mutations (Table 3).
Mutations conferring NMD or premature
termination codon were associated with a later age at breast cancer diagnosis.
Not exact matches
In Great Pyrenees, English Mastiff, and bullmastiff dogs, a C73T mutation in exon 2 causes a premature translation
termination that limits the open - reading frame to 25
codons, compared with 580
codons in the wild - type mRNA (cmr1) and in Coton de Tulears a G482A transition changes an evolutionarily conserved glycine residue to aspartic acid (cmr2).