Mutation - selection models
of codon substitution and their use to estimate selective strengths on codon usage.
Mutation - selection models
of codon substitution and their use to estimate selective strengths on codon usage Yang, Z. and R. Nielsen.
Not exact matches
Scientists have noted previously that some people seem less susceptible to prion diseases if they have an amino - acid
substitution in a particular region
of the prion protein —
codon 129.
Recently, we and others identified a recurrent somatic activating mutation in the JAK2 tyrosine kinase in polycythemia vera (PV), essential thrombocythemia (ET), and myeloid metaplasia with myelofibrosis (MMM).9 - 13 This mutation results in a valine to phenylalanine
substitution at
codon 617 within the Jak homology domain 2 (JH2) pseudokinase domain
of Janus kinase 2 (JAK2).
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].
This led to the eventual identification
of a single nucleotide
substitution in the second
codon of a previously unknown gene that is now known to be the cause
of PRCD in at least 18 different breeds [23].