11 Such silent mutations
become significant in PND for thalassaemia.
Some silent mutations
of the PrP gene in goats have also been reported: 42 (a [right arrow] g), 107 (g [right arrow] a), 138 (c [right arrow] t), 179 (g [right arrow] t), 181 (c [right arrow] t), 202 (c [right arrow] t), 207 (g [right arrow] a), 219 (c [right arrow] t) and 231 (a [right arrow] c) (Goldmannn et al.
These isolates also shared silent mutation
8550 C [right arrow] T, which had been reported in the 2004 human isolate DQ164201 from Arizona (18).
such as the HFE variant T189C are usually considered insignificant, with the caveat that they could be involved with splice sites or DNA/protein binding sites.
All 39 W-Beijing isolates carrying the mutT2 polymorphism at codon 58 also displayed a concurrent silent mutation
in codon 12 (Gly GGG to GGA Gly) of the ogt gene.
Two sequence variations are known in exon 7: the G460A mutation of the *3 allele and one silent mutation
T474C (*1S; Fig.
b) A silent mutation
occurred at the last base of exon 4 and resulted in a 200-bp deletion of the mRNA (including one sequence primer site).
The novel dtxR sequences contained silent mutations
and the novel frame-shift, missense, and/or nonsense mutations of the novel tox sequences.
To date, 142 mutations have been identified in the MEFV gene, most of which are substitutions (78 of them are missense, one nonsense, 39 silent mutations
, 17 are located in introns, two in UTS), one is duplication, two are insertions and two are deletions.
Certain silent mutations
and several novel mutations outside the hot-spot" region were also found.
Some SNPs have a direct or even pathogenic impact on coding sequences, but many do not--either because they are outside of coding regions, or because they are silent mutations
(ones that do not change amino-acid sequence) when in coding regions.
DNA sequencing of direct patient samples (or if not available, isolates) with possible RMP resistance should include genetic loci associated with resistance to RMP (to include rpoB) as well as isoniazid (to include inhA and katG) to assess for multidrug/ resistant tuberculosis; rpoB mutations detected by the Xpert MTB/RIF assay might be silent mutations
that do not affect RMP susceptibility.
To compare results generated from gDNA and WGA samples, we analyzed all detected variants, including SNPs, silent mutations
, and variants located in introns or untranslated regions.
PAH exposures were also inconsistently related to p53 missense, nonsense, and silent mutations
and his colleagues led the team to suspect that those silent mutations
might lead to significant differences.