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Mutation of this gene can lead to a mutator phenotype [34].
Mutation of this domain uncouples Set2 from RNAPII and results in selective loss of H3K36me3 (Fig. 1f and ref. 18).
A study by Prof O'Rahilly found that of 500 people who became obese in early life, 6% had a mutation of this particular gene.
A single alanine mutation of this residue virtually abolishes stable complex formation.
Mutation of this gene displays an increased water transpiration and drought susceptibility.
Indeed, mutation of this amino acid to any other amino acid (excluding cysteine) resulted in undetectable binding to FcRn at pH 6.0.
The mutation of this gene is a series of CTG/CAG trinucleotide repeats causing a malfunctioning gene.
Therefore, mutation of this residue renders the protein inactive.
Mutation of this site reduced both promoter activation and AhR binding.
Moreover, mutation of this amino acid to alanine (W286A) significantly disrupted U4 snRNA-gemin5 interaction.
Mutation of this MRE abolished the activity of the miR-29a precursor.
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