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XPV fibroblast (GM03055) also has a nonsense mutation at nucleotide 376 of the XPV gene (376C>T).
The A → T mutation at nucleotide position 807 present in all the reported sequences did not translate into change of amino acid.
The most commonly occurring hepatitis B virus (HBV) mutation is the G to A mutation at nucleotide 1896 in the precore region.
Our results provide the first direct evidence that a point mutation at nucleotide 86 of RNase P catalytic RNA from Escherichia coli (A86 → C86) increases the rate of chemical cleavage while another mutation at nucleotide 205 (G205 → C205) enhances substrate binding of the ribozyme.
The allelic Pid3 loci in most of the tested japonica varieties were identified as pseudogenes due to a nonsense mutation at nucleotide position 2,208 starting from the translation initiation site.
Two sequences from China (AF502435 and AY249434) had an additional mutation at nucleotide position 119 from G → A which translated into an amino acid substitution from arginine to histidine.
Two reported sequences from India, (Accession Nos. AY422227 and DQ902655), gave a T → C mutation at nucleotide positions 25 and 44 that translated into change of amino acids; serine to proline and valine to alanine, respectively.
Nucleotide sequence comparison of rhesus UGT1A01 to other rhesus UGT1A isoforms detected a single-transition mutation at nucleotide 1520 (T→C), resulting in a neutral F to S substitution at position 507.
We have initiated a gene therapy trial to determine the safety and tolerability of escalated doses of an adeno-associated virus vector (AAV) expressing a normal ND4 complementary DNA in patients with a G to A mutation at nucleotide 11778 of the mitochondrial genome.
For od22, we identified a premature stop codon mutation at nucleotide 88 of the predicted rpm-1 cDNA sequence.
The somatic T>A mutation at nucleotide 1799 causing the V600E mutation in the BRAF gene was determined using a fluorescent allele specific PCR assay.
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